ABSTRACT Objective. To determine the feeding behavior of Aedes aegypti in dengue outbreaks in two rural areas of Peru during the Yaku cyclone and El Niño phenomenon of 2023. Material and methods. Eight blood samples (8 pools) were obtained from the abdomen of 80 Aedes aegypti specimens captured in the rural districts of Querecotillo and Marcavelica during the Yaku cyclone and El Niño dengue outbreaks. DNA was extracted from the analyzed samples, then a PCR was directed at the CytB gene as a genetic marker and the PCR products were enzymatically digested with the restrictases Hae III and Mwo I. The PCR-RFLP products were visualized by agarose gel electrophoresis at 4%. Results. DNA was obtained from all samples and a 358 bp amplicon was obtained as a PCR product. Likewise, the only RFLP found in Hae III was from Homo sapiens sapiens (233 and 125 bp). RFLP was not found in Hae III of Gallus gallus and RFLP in Mwo I of Canis familiaris and Mus musculus. Conclusion. Aedes aegypti showed conserved anthropophilic feeding behavior in dengue outbreaks in rural areas during the Yaku cyclone and El Niño.

RESUMEN Objetivos. Determinar la alimentación del Aedes aegypti en brotes de dengue de dos zonas rurales del Perú durante el ciclón Yaku y El Niño Global del 2023. Material y métodos. Se analizaron ocho muestras de sangre (8 pooles) obtenidas del abdomen de 80 especímenes Aedes aegypti capturados en los distritos rurales de Querecotillo y Marcavelica durante brotes de dengue acontecidos en el ciclón Yaku y en El Niño Global. Se extrajo ADN de las muestras analizadas, se llevó a cabo una PCR dirigida al gen CytB como marcador genético y los productos PCR fueron digeridos enzimáticamente con las restrictasas Hae III y Mwo I. Los productos PCR-RFLP fueron visualizados por electroforesis en gel de agarosa al 4%. Resultados. Se obtuvo ADN de todas las muestras y como producto PCR un amplicón de 358 pb. Así mismo, el único RFLP en Hae III observado fue el de Homo sapiens sapiens (233 y 125 pb). No se observó RFLP en Hae III de Gallus gallus y RFLP en Mwo I de Canis familiaris y Mus musculus. Conclusión. En brotes de dengue de zonas rurales, durante el ciclón Yaku y en El Niño Global, el Aedes aegypti presentó un comportamiento alimenticio antropofílico conservado.

Abstract The work aims to analyze the associations of polymorphic variants of the PRL and BLG genes with resistance and susceptibility to mastitis in Holstein cows. The experimental study consisted of the selection of biomaterial samples from 250 heads of Holstein cows aged 3 years divided into two groups (healthy and with a confirmed diagnosis of mastitis). The determination of animal genotypes was carried out using polymerase chain reaction and restriction fragment length polymorphism. The study of the nature of the association of polymorphic variants of the PRL and BLG gene with resistance/increased risk of mastitis established a significant deviation from the theoretically expected distribution of bBLG-HaeIII genotypes in the group of animals suffering from mastitis (the value of χ2 was 0.24). The bBLG-HaeIIIBB genotype can act as a marker of an increased risk of developing mastitis in Holstein cows; its frequency in the group of sick animals exceeds the frequency in the control group by more than 2 times (44.0 compared to 17.0%, respectively). The bBLG-HaeIIIAB genotype is significantly associated with mastitis resistance in Holstein cows; its frequency is 2 times lower than in the control group (28.0 compared to 54.0%). 25 healthy mastitis. . mastitis) polymorphism resistanceincreased bBLGHaeIII bBLG HaeIII χ 0.24. 024 0.24 0 24 0.24) bBLGHaeIIIBB HaeIIIBB 44.0 440 44 (44. 170 17 17.0% respectively. respectively respectively) bBLGHaeIIIAB HaeIIIAB 28.0 280 28 (28. 54.0%. 540 54.0% 54 54.0%) 02 0.2 44. 4 (44 1 17.0 28. (28 54.0 5 0. (4 17. (2 54. (

Resumo O trabalho tem como objetivo analisar as associações de variantes polimórficas dos genes PRL e BLG com resistência e suscetibilidade à mastite em vacas holandesas. O estudo experimental consistiu na seleção de amostras de biomateriais de 250 cabeças de vacas holandesas com 3 anos de idade divididas em dois grupos (saudáveis e com diagnóstico confirmado de mastite). A determinação dos genótipos dos animais foi realizada utilizando reação em cadeia da polimerase e polimorfismo de comprimento de fragmentos de restrição. O estudo da natureza da associação de variantes polimórficas do gene PRL e BLG com resistência/risco aumentado de mastite estabeleceu um desvio significativo da distribuição teoricamente esperada dos genótipos bBLG-HaeIII no grupo de animais que sofrem de mastite (o valor de χ2 foi 0,24). O genótipo bBLG-HaeIIIBB pode atuar como marcador de risco aumentado de desenvolvimento de mastite em vacas holandesas; sua frequência no grupo de animais doentes excede a frequência no grupo controle em mais de duas vezes (44,0% contra 17,0%, respectivamente). O genótipo bBLG-HaeIIIAB está significativamente associado à resistência à mastite em vacas holandesas; sua frequência é duas vezes menor que no grupo controle (28,0% contra 54,0%). 25 saudáveis mastite. . mastite) restrição resistênciarisco bBLGHaeIII bBLG HaeIII o χ 0,24. 024 0,24 0 24 0,24) bBLGHaeIIIBB HaeIIIBB 44,0% 440 44 (44,0 170 17 17,0% respectivamente. respectivamente respectivamente) bBLGHaeIIIAB HaeIIIAB 28,0% 280 28 (28,0 54,0%. 540 54,0% 54 54,0%) 2 02 0,2 44,0 4 (44, 1 17,0 28,0 (28, 54,0 5 0, 44, (44 17, 28, (28 54, (4 (2 (

ABSTRACT Objective: Nonalcoholic fatty liver disease (NAFLD) is a chronic liver disease and a growing global epidemic. In NAFLD, liver fat surpasses 5% of hepatocytes without the secondary causes of lipid accumulation or excessive alcohol consumption. Given the link between NAFLD and insulin resistance, the possible association between the rs2854744 (−202 G>T) promoter polymorphism of insulin-like growth factor binding protein 3 (IGFBP3) gene and NAFLD was investigated in this study. Materials and methods: In this genetic case-control association study, the IGFBP3 rs2854744 genotypes of 315 unrelated individuals, including 156 patients with biopsy-proven NAFLD and 159 controls, were determined using polymerase chain reaction/restriction fragment length polymorphism analyses. Results: The “GT+TT” genotype of the IGFBP3 rs2854744 polymorphism, compared with the “GG” genotype, was associated with a 2.7-fold increased risk of NAFLD after adjustment for confounding factors (P = 0.009; odds ratio [OR] = 2.71; 95% confidence interval [CI] = 1.19-3.18). Additionally, the IGFBP3 rs2854744 “T” allele, in comparison with the “G” allele, was significantly overrepresented in NAFLD patients than the controls (P = 0.008; OR = 1.85; 95%CI = 1.23-2.94). Conclusion: Our findings first indicated that the IGFBP3 rs2854744 “GT+TT” genotype is a marker of increased NAFLD susceptibility; however, it needs to be supported by further investigations in other populations. Objective (NAFLD epidemic 5 consumption resistance rs rs285474 −202 202 (−20 G>T GT G T insulinlike like IGFBP (IGFBP3 study methods casecontrol case control 31 individuals 15 biopsyproven biopsy proven reactionrestriction reaction restriction analyses Results GT+TT GTTT TT “GT+TT GG “GG 2.7fold 27fold fold 2.7 2 7 P 0.009 0009 0 009 [OR 2.71 271 71 95 CI [CI 1.193.18. 119318 1.19 3.18 . 1 19 18 1.19-3.18) Additionally “T allele “G 0.008 0008 008 1.85 185 85 95CI 1.232.94. 123294 1.23 2.94 23 94 1.23-2.94) Conclusion susceptibility however populations rs28547 −20 20 (−2 (IGFBP 7fold 27 2. 0.00 000 00 9 193 1.193.18 11931 119 1.1 318 3.1 1.19-3.18 1.8 8 232 1.232.94 12329 123 1.2 294 2.9 1.23-2.94 rs2854 −2 (− 0.0 1.193.1 1193 11 1. 3. 1.19-3.1 1.232.9 1232 12 29 1.23-2.9 rs285 − ( 0. 1.193. 1.19-3. 1.232. 1.23-2. rs28 1.193 1.19-3 1.232 1.23-2 rs2 1.19- 1.23-

Resumen OBJETIVO: Determinar si existe asociación entre los polimorfismos G-308A (rs1800629) y G-238A (rs361525) del promotor del factor de necrosis tumoral alfa y la pérdida gestacional recurrente. MATERIALES Y MÉTODOS: Estudio observacional, transversal, descriptivo de casos y controles llevado a cabo entre enero de 2020 y diciembre de 2021 en el Hospital de la Mujer de Aguascalientes y en el Laboratorio de Virología e Ingeniería Genética de la Universidad Autónoma de Aguascalientes. Se estudiaron pacientes con pérdidas gestacionales recurrentes y sin éstas, con embarazo normal (controles). RESULTADOS: Se estudiaron 300 pacientes: 150 con pérdida gestacional recurrente y 150 con embarazo normal (controles). Se encontraron 19 pacientes (12.6%) con pérdida gestacional recurrente primaria y 131 (87.4%) con pérdida gestacional recurrente secundaria. Las pacientes con pérdida gestacional recurrente tuvieron, significativamente, mayor edad (28 ± 6.43 en comparación con 26 ± 6.07 años; p = 0.006), más abortos (mediana de 2 en comparación con 0; p = 0.049) y menos semanas de gestación (13.18 ± 12.51 en compoaración con 34.55 ± 10.99; p = 0.0001) que las pacientes del grupo control. De los diferentes modelos genéticos, ninguno demostró un incremento significativo de riesgo para G-308A (rs1800629); sin embargo, para G-238A (rs361525) los modelos heterocigoto (RM 4.36, IC95%: 1.2-15.78; p = 0.012) y dominante (RM 4.36, IC95%: 1.42-13.36; p = 0.005) sí mostraron un aumento de probabilidad. En el análisis multivariado ninguna variable clínica demostró significación estadística. CONCLUSIÓN: En el grupo estudiado, el polimorfismo G-238 A (rs361525) del gen TNF-α mostró asociación con la pérdida gestacional recurrente, no así el polimorfismo G-308A (rs1800629).

Abstract OBJECTIVE: To determine if there is an association between polymorphisms G-308A (rs1800629) and G-238A (rs361525) of the tumor necrosis factor alpha (TNF-α) with the presence of recurrent pregnancy loss in patients treated at the Women's Hospital of the City of Aguascalientes. MATERIALS AND METHODS: An observational, case-control study was conducted in 150 patients with recurrent pregnancy loss and 150 patients with normal pregnancies. Different clinical variables were studied and the polymorphisms of the TNF-α tumor gene, G-308A (rs1800629) and G-238A (rs361525). Were genotyped by restriction fragment length polymorphism (RFLP) reaction and the prevalences of the genotypes between both groups was compared, as well as the Odds ratios (OR) of the genotypes and mutated alleles using various genetic models. Multivariate analysis was performed to determine the effect of clinical variables and the presence of these polymorphisms. RESULTS: Patients with recurrent pregnancy loss were significantly older, had more miscarriages and a lower gestational age than those in the control group. For the G-308A (rs1800629) polymorphism, no significant difference was observed in the prevalences between both groups. For G-238A (rs361525) the prevalence was 6.7% for patients and 1.7% for women with normal pregnancies, with a statistically significant difference (p = 0.004). None of the different genetic models showed a significant increase for G-308A (rs1800629), however, for G-238A (rs361525) the heterozygous (OR 4.36, 95%IC: 1.2-15.78; p=0.012) and dominant (OR 4.36, 95%IC: 1.42-13.36, p=0.005) models did show an increase in said probability. In the multivariate analysis, no clinical variable showed statistical significance. CONCLUSION: The G-238A (rs361525) polymorphism of the tumor necrosis factor alpha gene shows an association, and a higher risk of recurrent pregnancy loss in our population.

Abstract Objective: The aim of this study was to examine the relationship between BstUI restriction fragment length polymorphisms (RFLP) C/T (rs 12722) and DpnII RFLP B1/B2 (rs 13946) COL5A1 polymorphisms and the anterior cruciate ligament (ACL) rupture in competitive team-sport athletes. Methods Sixty-eight team-sport players (n = 36 women and n = 32 men) with non-contact ACL rupture (ACLR) occurred during sport practices (ACLR Group) and 42 healthy players (n = 20 women and n = 22 men) (Control Group) participated in the study. Genomic DNA was extracted from buccal swab with salting out method. All samples were genotyped for the polymorphisms rs12722 and rs13946 by polymerase chain reaction (PCR) and restriction enzymes analysis. Results No significant difference has been found between ACRL and Control groups in age, height, weight body, mass index, sport practice (hours/week) and gender distribution among the different team sports. Control group had longer sport careers (p< 0.005). The frequency distributions of COL5A1 DpnII nucleotide polymorphisms were in Hardy-Weinberg equilibrium (HWE) in both groups (p of the Hardy-Weinberg (HW) -test > 0.005). Genotype frequencies of COL5A1 BstUI RFLP C/C was lower in the ACLR group compared to the Control group (p of the HW-test = 0.001). Combined CC, B1B1 genotypes showed a protective effect against ACL rupture (OR = 83.3 / 16.7 = 5). Conclusions The COL5A1 gene may be one of the genetic factors associated with ACLR in team sport. Objective (RFLP CT C T rs 12722 B1B2 BB B1 B2 B B1/B 13946 COLA COL A COL5A (ACL teamsport athletes Sixtyeight Sixty eight 3 men noncontact non contact Group 4 2 method rs1272 rs1394 PCR (PCR analysis age height body index hours/week hoursweek hours week (hours/week sports p< p 0.005. 0005 0.005 . 0 005 0.005) HardyWeinberg Hardy Weinberg HWE (HWE HW (HW test CC HWtest 0.001. 0001 0.001 001 0.001) B1B OR 833 83 83. 167 16 7 16. 5. 5 5) 1272 1394 rs127 rs139 000 0.00 00 8 1 127 139 rs12 rs13 0.0 12 13 rs1 0.

Resumo Objetivo: O objetivo deste estudo foi examinar a relação entre os polimorfismos do comprimento do fragmento de restrição (RFLP) BstUI C/T (rs 12722) e RFLP DpnII B1/B2 (rs 13946) COL5A1 e a ruptura do ligamento cruzado anterior (LCA) em atletas de esportes coletivos. Métodos Sessenta e oito atletas de esportes coletivos (n = 36 mulheres e n = 32 homens) com ruptura do LCA (RLCA) sem contato ocorreram durante práticas esportivas (Grupo RLCA) e 42 jogadores saudáveis (n = 20 mulheres e n = 22 homens) (Grupo Controle) participaram do estudo. O DNA genômico foi extraído do swab bucal com o método salting out. Todas as amostras foram genotipadas para os polimorfismos rs12722 e rs13946 por reação em cadeia da polimerase (PCR) e análise de enzimas de restrição. Resultados Nenhuma diferença significativa foi encontrada entre os grupos RLCA e Controle em idade, altura, peso corporal, índice de massa, prática esportiva (horas/semana) e distribuição de gênero entre os diferentes esportes coletivos. O grupo controle teve carreiras esportivas mais longas (p< 0,005). As distribuições de frequência dos polimorfismos de nucleotídeos COL5A1 DpnII estavam em equilíbrio de Hardy-Weinberg (EHW) em ambos os grupos (p do teste de Hardy-Weinberg (HW) > 0,005). As frequências genotípicas de COL5A1 BstUI RFLP C/C foram menores no grupo RLCA em comparação com o grupo Controle (p do teste HW = 0,001). Os genótipos combinados CC, B1B1 mostraram um efeito protetor contra a ruptura do LCA (OR = 83,3 / 16,7 = 5). Conclusões O gene COL5A1 pode ser um dos fatores genéticos associados à RLCA em esportes coletivos. Objetivo (RFLP CT C T rs 12722 B1B2 BB B1 B2 B B1/B 13946 COLA COL A COL5A (LCA 3 homens (RLCA Grupo 4 2 out rs1272 rs1394 PCR (PCR idade altura corporal massa horas/semana horassemana horas semana (horas/semana p< p 0,005. 0005 0,005 . 0 005 0,005) HardyWeinberg Hardy Weinberg EHW (EHW (HW CC 0,001. 0001 0,001 001 0,001) B1B OR 833 83 83, 167 16 7 16, 5. 5 5) 1272 1394 rs127 rs139 000 0,00 00 8 1 127 139 rs12 rs13 0,0 12 13 rs1 0,

SUMMARY OBJECTIVE: The aim of this study was to evaluate the vitamin D receptor (VDR) BsmI variant in morbidly obese patients compared with healthy normal controls. METHODS: The study included 103 patients with morbid obesity and 120 healthy individuals serving as normal controls. The DNA samples obtained from blood were genotyped using the polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) technique. The gender, age, smoking status, triglycerides, total cholesterol, insulin, mean body mass index, and frequency of allele and genotype of the BsmI variant in the VDR gene in morbidly obese patients were evaluated. RESULTS: The body mass index of the patients was 47.14 ± 7.19. The VDR B/B, B/b, and b/b genotype frequencies were 27.2% versus 28.3%; 54.4% versus 50%; and 18.4% versus 21.7% in the morbidly obese patients and the control group, respectively. There was no statistically significant difference between patients and control subjects in the genotype and allele distribution of the VDR BsmI variant (p>0.05). Both patients and control genotype frequencies are consistent with Hardy-Weinberg equilibrium. CONCLUSION: The BsmI variant in the VDR gene may not seem to predispose to morbid obesity in our study population. Further studies with a larger number of subjects are needed to make a more precise evaluation of this relationship. OBJECTIVE (VDR controls METHODS 10 12 reactionrestriction reaction restriction PCRRFLP PCR RFLP (PCR-RFLP technique gender age status triglycerides cholesterol insulin evaluated RESULTS 4714 47 14 47.1 719 7 19 7.19 BB B B/B Bb b B/b bb 272 27 2 27.2 28.3% 283 28 3 544 54 4 54.4 50% 50 184 18 18.4 217 21 21.7 group respectively p>0.05. p005 p p>0.05 . 0 05 (p>0.05) HardyWeinberg Hardy Weinberg equilibrium CONCLUSION population relationship 1 471 47. 71 7.1 27. 28.3 5 54. 18. 21. p00 p>0.0 (p>0.05 7. 28. p0 p>0. (p>0.0 p>0 (p>0. p> (p>0 (p> (p

ABSTRACT Introduction: Chronic immune thrombocytopenia (cITP) is characterized by dysregulation of the immune response. Until recently, the role of Th2-related cytokine gene polymorphisms was unclear. Interleukin 4 (IL-4) exerts its functions by binding to three types of IL-4 receptor (IL-4R) complexes. We aimed to explore the potential association between the gene polymorphism of IL-4Rα and cITP. Methods: We investigated the clinical impact of the IL-4Rα (rs1801275) A>G single nucleotide polymorphism (SNP) using the polymerase chain reaction (PCR) followed by the restriction fragment length polymorphism (RFLP) method in 82 cITP patients and 60 healthy controls (HCs). Results: The IL-4Rα (rs1801275) A>G polymorphism analysis showed the mutant GG genotype was significantly higher in control females (p = 0.033). The wild AA genotype had a higher bleeding score (p = 0.02) in the adulthood onset group. Furthermore, the wild AA genotype in the cITP childhood onset group was significantly associated with the disease severity, as well as the response to treatment (p = 0.040). Conclusion: The mutant G allele is protective against the susceptibility to cITP in the Egyptian females. The IL-4Rα (rs1801275) A>G polymorphism may affect the clinical severity of cITP and treatment response in the Egyptian population. Introduction (cITP recently Th2related Threlated Th2 related Th unclear IL4 IL (IL-4 IL- IL4R ILR 4R R (IL-4R complexes IL4Rα ILRα 4Rα Rα Methods rs1801275 rs (rs1801275 AG A SNP (SNP PCR (PCR RFLP (RFLP 8 6 HCs. HCs . (HCs) Results p 0.033. 0033 0.033 0 033 0.033) 0.02 002 02 Furthermore 0.040. 0040 0.040 040 0.040) Conclusion population (IL- rs180127 (rs180127 (HCs 003 0.03 03 0.0 00 004 0.04 04 (IL rs18012 (rs18012 0. rs1801 (rs1801 rs180 (rs180 rs18 (rs18 rs1 (rs1 (rs

ABSTRACT Introduction: Epidemiologic studies on pediatric acute lymphoblastic leukemias (ALL) have been conducted to evaluate the possible risk factors including genetic, infectious and environmental factors with the objective of idenfying the etiology. Mannose-bind-ing lectin 2 (MBL2) plays an important role in first-line immune defense. HLA DRB1 alleles play a role in presentation of peptides to T cells and in activation of the adaptive immune response. Objective: In our study, we aimed to investigate both the MBL2 gene variant and HLA-DRB1 alleles in pediatric ALL patients. Materials: In this study, 86 high-risk ALL patients and 100 controls were included. Polymerase Chain Reaction (PCR)-Restriction Fragment Length Polymorphism (PCR-RFLP) and PCR-sequence specific primer (SSP) methods were used for detection of polymorphism of the MBL2 and HLA-DRB1 alleles, respectively. Results: The frequency of the MBL2 AB genotype was lower in female ALL patients, compared to male ALL patients (p = 0.034). An association was found between the MBL2 BB genotype and DRB1*07 and among patients with the MBL2 BB genotype; those who also carried the DRB1*07 and *04 alleles were significantly higher than those without the DRB1*07 and *04 alleles. (p = 0.048, p = 0.022, respectively). Conclusion: This is the first study suggesting that the MBL2 BB genotype in association with the DRB1*07 or co-inheritance of the HLA-DRB1*04 and HLA DRB1*07 may have an impact on the etiopathogenesis of the disease. Introduction (ALL genetic etiology Mannosebinding Mannose bind ing MBL (MBL2 firstline line defense DRB response Objective HLADRB1 HLADRB HLA-DRB Materials 8 highrisk high 10 included PCRRestriction PCR Restriction PCRRFLP RFLP (PCR-RFLP PCRsequence sequence SSP (SSP respectively Results 0.034. 0034 0.034 . 0 034 0.034) DRB107 07 DRB1*0 04 *0 0048 048 0.048 0022 022 0.022 respectively) Conclusion coinheritance co inheritance HLADRB1*04 HLADRB104 DRB1*04 HLA-DRB1*0 disease (MBL 1 003 0.03 03 DRB10 DRB1* * 004 0.04 002 02 0.02 HLADRB1*0 HLADRB10 DRB104 HLA-DRB1* 00 0.0 HLADRB1* 0.

BACKGROUND: The clinical presentations of coronavirus disease 2019 (COVID-19) exhibit significant variation, ranging from asymptomatic cases to mortality resulting from severe pneumonia. Host genetics can partially explain this variation OBJECTIVE: This study evaluated possible associations between severity and outcome of COVID-19 and single nucleotide polymorphism (SNP) rs2285666 in the ACE2 gene and SNP rs2070788 in the TMPRSS2 gene METHODS: The study included a sample of 100 consecutive adult patients admitted to the COVID-19 Isolation and Intensive Care Units of the Zagazig University Hospitals, Zagazig, Egypt from July 2021 to November 2021. For rs2285666, polymerase chain reaction-restriction fragment length polymorphism was carried out. For rs2070788, real-time polymerase chain reaction was performed RESULTS: For rs2285666, the GA genotype was the most frequent among female patients (39% [16/41]) and the A genotype was more prevalent among male patients (54.2% [32/59]). For rs2070788, the AA genotype was the most frequent among all patients (46% [46/100]). No rs2285666 or rs2070788 genotypes or allele frequencies had significant associations with either severity or outcomes of patients CONCLUSION: This study found no significant associations of COVID-19 severity or outcomes of patients with genotypes or allele frequencies of the rs2285666 SNP in the ACE2 gene or the rs2070788 SNP of the TMPRSS2 gene. The search for other genetic associations with COVID-19 infection is still required WHAT THIS STUDY ADDS: The study reveals that host genetics explain the variation observed in the disease. Specific genetic variants can confer either increased susceptibility or resistance to the disease.

Abstract Interleukins 6 and 17 act in bone resorption in the presence of infections of endodontic origin for host defense. Genetic polymorphisms may be associated with increased bone loss, represented by areas of large periapical lesions. This study aimed to verify the frequency of interleukin 6 and 17 gene polymorphism in patients with asymptomatic apical periodontitis or chronic apical abscess and to verify the existence of correlations between periapical lesion area with age, gender, and presence of the polymorphism, in the studied population, in the state of Pernambuco. A population consisting of thirty diagnosed individuals was included. The area of the lesions was measured in mm². Genomic DNA was extracted and genotyping was performed by Polymerase Chain Reaction Restriction Fragment Length Polymorphism for interleukin 6 (rs 1800795) and interleukin 17 (rs 2275913). Fisher's exact, chi-square, and odds ratio tests were used. A logistic regression analysis was also performed using sex, age, and the presence of polymorphism as covariates, in addition to linear regression to test the relationship between age and lesion area. All tests used a significance level of 0.05% (p ≤0.05%). There was no statistical significance in the occurrence of large areas of periapical lesions correlated with age, sex, and diagnosis, nor in the distribution of alleles in the polymorphism of interleukins 6 and 17 in the studied groups. The frequency of homozygous and heterozygous polymorphism was high. The polymorphism of these interleukins is not correlated with the increase in the areas of asymptomatic periapical inflammatory lesions. 1 defense loss gender Pernambuco included mm² mm rs 1800795 2275913. 2275913 . 2275913) Fishers Fisher s exact chisquare, chisquare chi square, square chi-square sex covariates 005 0 05 0.05 p ≤0.05%. ≤0.05% ≤0.05%) diagnosis groups high 180079 227591 00 0.0 ≤0.05 18007 22759 0. ≤0.0 1800 2275 ≤0. 180 227 ≤0 18 22 ≤ 2

Resumo As interleucinas 6 e 17 atuam na reabsorção óssea na presença de infecções de oriegem endodôntica para defesa do hospedeiro. Polimorfismos genéticos podem estar associados ao aumento da perda óssea, representada por áreas de lesões periapicais grandes. O objetivo deste estudo foi verificar a frequência do polimorfismo dos genes interleucina 6 e 17 em pacientes com periodontite apical assintomática ou abscesso apical crônico e verificar a existência de correlações entre área de lesão periapical com idade, sexo e presença do polimorfismo, na população estudada, no estado de Pernambuco. Foi incluída uma população constituída por trinta indivíduos diagnosticados. A áreas da lesões foram medidas em mm². O DNA genômico foi extraído e a genotipagem realizada por Polimorfismo de Comprimento de Fragmento de Restrição de Reação em Cadeia da Polimerase para interleucina 6 (rs 1800795) e interleucina 17 (rs 2275913). Os testes exato de Fisher, qui-quadrado e odds ratio foram utilizados. Uma análise de regressão logística também foi realizada usando sexo, idade e presença de polimorfismo como covariável, além de regressão linear para testar a relação da idade e área da lesão. Todos os testes utilizaram um nível de significância de 0,05% (p ≤0.05%). Não houve significância estatística na ocorrência das áreas grandes de lesões periapicais correlacionadas com idade, sexo e diagnóstico nem nas distribuições de alelos no polimorfismo das interleucinas 6 e 17 nos grupos estudados. A frequência de polimorfismo homozigoto e heterozigoto foi alta. O polimorfismo dessas interleucinas não está correlacionado ao aumento das áreas das lesões inflamatórias periapicais assintomáticas. 1 hospedeiro estudada Pernambuco diagnosticados mm² mm rs 1800795 2275913. 2275913 . 2275913) Fisher quiquadrado qui quadrado utilizados covariável 005 0 05 0,05 p ≤0.05%. ≤0.05% ≤0.05%) estudados alta assintomáticas 180079 227591 00 0,0 ≤0.05 18007 22759 0, ≤0.0 1800 2275 ≤0. 180 227 ≤0 18 22 ≤ 2

ABSTRACT Introduction: The Band 3 is a red blood cell protein that carries the Dia and Dib antigens from the Diego blood system. The SLC4A1 gene encodes Band 3; Band 3 Memphis is a polymorphism of normal Band 3 and has two variants, but only the variant II carries the Dia antigen. Objectives: Describe the frequencies of the DI*A and DI*B alleles and the Band 3 Memphis among blood donors, sickle cell disease (SCD) patients and Amazonian Indians. Methods: A total of 427 blood samples were collected and separated into three groups: 206 unrelated blood donors, 90 patients with SCD and 131 Amazonian Indians. We performed DI*A/B, normal Band 3 and Band 3 Memphis genotyping, using the Polymerase Chain Reaction Restriction Fragment Length Polymorphism (PCR–RFLP). Results: The frequency of the DI*A/DI*A genotype was 0.5% in blood donors and it was not found in other groups. The frequency of the DI*A/DI*B was higher in Amazonian Indians (33.6%) and the frequency of the DI*B/DI*B was highest in blood donors (92.2%). All 105 individuals tested were positive for the presence of normal Band 3 and of these individuals, only 5/105 (4.8%) presented the Band 3 Memphis mutation. Conclusion: We observed a higher frequency of the DI*B allele in blood donors and a low frequency of the DI*A/DI*A genotype in all groups studied. The Band 3 Memphis was found in a higher frequency in the blood donor group. Our findings highlight the importance of analyzing different population groups to gain a better understanding of the genetic association of blood group antigens. Introduction system SLCA SLC SLC4A variants antigen Objectives DIA DI DIB B (SCD Methods 42 20 9 13 DIAB DI*A/B genotyping PCR–RFLP. PCRRFLP PCR–RFLP . PCR RFLP (PCR–RFLP) Results DIADIA 05 0 5 0.5 DIADIB 33.6% 336 33 6 (33.6% DIBDIB 92.2%. 922 92.2% 92 2 (92.2%) 10 5105 5/10 4.8% 48 4 8 (4.8% mutation Conclusion studied 1 (PCR–RFLP 0. 33.6 (33.6 92.2 (92.2% 510 5/1 4.8 (4.8 33. (33. 92. (92.2 51 5/ 4. (4. (33 (92. (4 (3 (92 ( (9

Abstract Background: Vitiligo is an acquired depigmented skin disorder. It has a genetic and autoimmune background. Human beta defensin-1(HBD-1) plus its gene polymorphism were linked to some autoimmune disorders. Objectives: To elucidate the possible role of HBD-1 in the pathogenesis of non-segmental vitiligo (NSV) through evaluation of HBD-1 serum levels and its single nucleotide polymorphism (SNP) in patients having NSV, in addition, to correlating the results with the extent of vitiligo in those patients. Methods: A current case-control study included 50 patients having NSV and 50 controls. The authors used Vitiligo Area Scoring Index (VASI) score to assess vitiligo severity and laboratory investigations to assess serum HBD-1 level using ELISA and defensin-beta1 (DEFB1) SNP using polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP). Results: There were significantly lower HBD-1 serum levels in NSV cases than in controls (p < 0.001). There was a significant predominance of GG DEFB1 genotype and G allele in NSV patients in comparison to controls (p < 0.001). The levels of serum HBD-1 and DEFB1 genotypes were not associated or correlated significantly with any of the personal and clinical parameters of vitiligo patients. Study limitations: The small sample size. Conclusions: DEFB1 gene polymorphism (GG genotype and G allele) may modulate vitiligo risk and contribute to vitiligo development in Egyptian populations. Decreased circulating HBD-1 levels might have an active role in vitiligo etiopathogenesis that could be mediated through its possible anti-inflammatory effects. Background disorder background defensin1HBD1 defensinHBD defensin 1 HBD defensin-1(HBD-1 disorders Objectives HBD1 HBD- nonsegmental non segmental (NSV (SNP addition Methods casecontrol case control 5 VASI (VASI defensinbeta1 defensinbeta beta1 defensin-beta DEFB (DEFB1 reactionrestriction reaction restriction PCRRFLP. PCRRFLP PCR RFLP . (PCR-RFLP) Results p 0.001. 0001 0.001 0 001 0.001) limitations size Conclusions populations antiinflammatory anti inflammatory effects defensin1HBD defensin-1(HBD- (DEFB (PCR-RFLP 000 0.00 00 defensin-1(HBD 0.0 0.

Abstract Introduction Phagocytosis of autoantibody-sensitized coated platelets through Fc gamma receptors on phagocytic cells is an important mechanism of thrombocytopenia in primary immune thrombocytopenia (ITP). Objective We aimed to investigate the contribution of the FcγRIIa and FcγRIIIa genes polymorphism to the risk of ITP and their association with disease characteristics in Egyptian children. Methods A case control study was conducted on eighty children with primary ITP and eighty age and sex healthy matched subjects as a control group. The FcγRIIa and FcγRIIIa genes polymorphism was detected using the polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP). Results We found that the FcγRIIa‐131H and ‐131R allele frequencies were 51.3 % and 48.7%, respectively, in children with ITP, versus 75% and 25%, respectively, in controls (p= 0.002). The compound heterozygous HR genotype was significantly higher in ITP patients (p < 0.05). The FcγRIIIa-158F and ‐158V allele frequencies were 46.3% and 53.7%, respectively, in children with ITP, versus 70% and 30%, respectively, in controls (p= 0.002). The compound heterozygous VF genotype was significantly higher in ITP patients (p < 0.05). The combined HR/FV genotype was 47.5% in ITP patients, versus 10% in controls (p < 0.001). No significant difference was found between children with newly diagnosed ITP and those who developed chronic ITP, regarding the frequency distribution of the FcγRIIa and FcγRIIIa alleles and genotypes (p > 0.05). Conclusion There is a possible association of the FcγRIIa and FcγRIIIa genes polymorphism with the risk for, and genetic susceptibility to ITP in Egyptian children, but large-scale studies are still needed to support our findings. autoantibodysensitized autoantibody sensitized ITP. . (ITP) group reactionrestriction reaction restriction PCRRFLP. PCRRFLP PCR RFLP (PCR-RFLP) FcγRIIa131H FcγRIIaH 131H H 131R R 513 51 3 51. 487 48 7 48.7% respectively 75 25 25% p= p 0.002. 0002 0.002 0 002 0.002) 0.05. 005 0.05 05 0.05) FcγRIIIa158F FcγRIIIaF 158F F 158V V 463 46 46.3 537 53 53.7% 70 30 30% HRFV FV 475 47 5 47.5 10 0.001. 0001 0.001 001 0.001) for largescale large scale findings (ITP (PCR-RFLP 4 48.7 2 000 0.00 00 0.0 46. 53.7 47. 1 48. 0. 53.

SUMMARY OBJECTIVE: The aim of this study was to determine frequency and associations between APOA5 c.56C>G, −1131T>C, c.553G>T, and APOC3 −482C>T and SstI gene polymorphisms with hypertriglyceridemia. METHODS: Under a case-control study model, 135 hypertriglyceridemic and 178 normotriglyceridemic control participants were recruited. Polymerase chain reaction and restriction fragment length polymorphism methods were utilized for genotyping. Statistical calculations were performed by comparing allele and genotype frequencies between groups. Clinical characteristics were compared between groups and intra-group genotypes. RESULTS: APOC3 gene −482C>T and SstI polymorphic genotypes and allele frequencies were significantly higher in hypertriglyceridemic group (genotype frequencies, p=0.035, p=0.028, respectively). Regression analysis under unadjusted model confirmed that APOC3 −482C>T and SstI polymorphisms were significantly contributing to have hypertriglyceridemia (p=0.02, odds ratio [OR]=1.831 (95% confidence interval [CI] 1.095–3.060); p=0.04, OR=1.812 (1.031–3.183), respectively). APOA5 c.56C>G was in complete linkage disequilibrium with APOA5 c.553G>T polymorphism (D’=1). CONCLUSION: For the first time in a population sample from Turkey, among the five polymorphisms of APOA5 and APOC3 genes investigated, APOC3 −482C>T and SstI polymorphisms were associated with elevated serum TG levels, while APOA5 c.56C>G, −1131T>C, and c.553G>T polymorphisms were not. OBJECTIVE APOA c56CG cCG c 56C G C 1131TC TC 1131T T −1131T>C c553GT cGT 553G APOC 482CT CT 482C METHODS casecontrol case 13 17 recruited genotyping intragroup intra RESULTS p0035 p 0 035 p=0.035 p0028 028 p=0.028 respectively. respectively . respectively) p=0.02, p002 02 (p=0.02 OR=1.831 OR1831 OR =1.831 1 831 [OR]=1.83 95% 95 (95 CI [CI 1.095–3.060 10953060 095 3 060 1.095–3.060) p004 04 p=0.04 OR1812 812 OR=1.81 1.031–3.183, 10313183 1.031–3.183 , 031 183 (1.031–3.183) D=1. D1 D =1 (D’=1) CONCLUSION Turkey investigated levels not CG GT p003 03 p=0.03 p=0.02 p00 (p=0.0 OR=1.83 OR183 1831 =1.83 83 [OR]=1.8 9 (9 1.095–3.06 1095306 09 06 p=0.0 OR181 81 OR=1.8 1031318 1.031–3.18 18 (1.031–3.183 D=1 = (D’=1 p0 (p=0. OR18 =1.8 8 [OR]=1. ( 1.095–3.0 109530 p=0. OR=1. 103131 1.031–3.1 (1.031–3.18 D= (D’= (p=0 OR1 =1. [OR]=1 1.095–3. 10953 p=0 OR=1 10313 1.031–3. (1.031–3.1 (D’ (p= [OR]= 1.095–3 1095 p= OR= 1031 1.031–3 (1.031–3. (D (p [OR] 1.095– 109 103 1.031– (1.031–3 [OR 1.095 10 1.031 (1.031– 1.09 1.03 (1.031 1.0 (1.03 1. (1.0 (1. (1

Abstract The quality and quantity of the extracted DNA are two key aspects for a successful PCR (Polymerase Chain Reaction) amplification. Moreover, reduction in time and cost required for DNA extraction are also two considerable factors, in cases when large number of samples are to be analyzed within a limited time-frame and budget. Accordingly, the aim of this study was to compare and optimize performance of five different DNA extraction methods by boiling meat tissues from cattle, buffalo, sheep, goat, chicken, camel, horse and dog in PBS (Phosphate Buffer Saline), distilled water, alkaline lysis buffers 1, 2 or 3. The results indicated that the boiling of meat and its products in alkaline lysis buffers was a good method to extract crude DNA. The optimized crude DNA extraction protocol was coupled with PCR-RFLP (Restriction Fragment Length Polymorphism) analysis for meat species differentiation. This developed workflow was tested on fifty-three commercial beef and mutton samples, out of which three samples were found to be adulterated. In conclusion, the rapid crude DNA extraction protocol has led to the development of a direct PCR-RFLP workflow that is simple, time-saving and cost-effective for PCR-based identification of different meat species. Polymerase Reaction amplification Moreover factors timeframe frame budget Accordingly cattle buffalo sheep goat chicken camel Phosphate Saline, Saline , Saline) water 1 3 PCRRFLP RFLP Restriction Polymorphism differentiation fiftythree fifty adulterated conclusion simple timesaving saving costeffective effective PCRbased based