Nabil S. Awad

Analysis of the APO B R3500Q Mutation and APOE Polymorphism in Taif Saudi Population using Polymerase Chain Reaction- Reveres Hybridization Technique

This study describes the use of Cardio Vascular Disease (CVD) Strip Assay which based on Polymerase Chain Reaction Reverse Hybridization Technique to study the prevalence of Apo B R3500Q mutation and Apo E genotypes in Taif city Saudi Arabian population. Among 200 unrelated healthy subjects residing in Taif city 5,600 feet above sea level complete absence of Apo B R3500Q mutation was observed. Among six different Apo E genotypes, five genotypes were detected (E3/E3, E4/E4, E2/E3, E2/E4 and E3/E4) with prevalence% (63, 2.5, 8.5,1 and 25) respectively. The allelic frequencies of Apo E alleles were 0.79 for E3, 0.15 for E4 and 0.048 for E2.Obtained data concluded that, this is the first report about Apo B R3500Q mutation in Saudi Arabia and the absence of it confirmed that this mutation has not reached Saudi Arabia from central Europe which is the common origin of this mutation. Among Apo E genotypes, only E2/E2 genotype was absent while another E2/E3 and E2/E4 genotypes were detected in Taif Saudi population.

Detection of FXIII gene V34L and fibrinogen β-gene - 455G/A polymorphisms among Saudi Arabia population via polymerase chain reaction-reverse hybridization technique

FXIII gene Val34Leu variant appears to be associated with decreased risk of myocardial infarction and venous thromboembolism as well as with increased risk of intracerebral hemorrhage. Fibrinogen β-gene SNP -455G/A are associated with differences in the plasma levels of fibrinogen and severity of arterial disease. The aim of the present work was to study the prevalence of FXIII gene V34L and Fibrinogen β-gene -455G/A SNPs in Saudi population. Among 200 blood samples randomly collected from unrelated healthy Saudi subjects, FXIII gene V34L and Fibrinogen β-gene -455G/A SNPs were genotyped via cardiovascular disease (CVD) StripAssay (ViennaLab, Austria. Homozygous (V/V) and heterozygous (V/L) genotypes were detected with 96 and 4%, respectively, among FXIII gene V34L genotypes, whereas (L/L) genotype was not found. The allele frequency was 0.98 for V allele and 0.02 for L allele. Three genotypes of Fibrinogen β-gene -455G/A SNP (GG, GA and AA) were obtained and its prevalence (%) was 70, 25 and 5, respectively. The frequency of G allele was 0.825 and 0.175 for A allele. Prevalence of FXIII gene Vl34L polymorphism and its allele frequency are in line with other Asian populations. Distribution of β-gene -455G/A genotypes and allele frequency are in accordance with previous reports in different ethnic groups. This is the first time to report these polymorphisms in Saudi Arabia population. This study provides valuable information on Saudi genetic background in comparison with other populations. In addition, it serves as a template for future clinical research involving cardiovascular and cerebrovascular diseases. Key words : FXIII gene V34L, fibrinogen β-gene -455G/A, polymorphisms, Saudi Arabia.

Prevalence of H1299R polymorphism in the Factor V gene among the Taif-Saudi Arabia population using polymerase chain reaction-reverse hybridization technique.

Cardiovascular disease (CVD) remains a major health hazard worldwide. Single nucleotide polymorphisms (SNPs) represent a part of risk factors that contributes to cardiovascular disease. SNP in the coagulation factor V genes have been shown to play a role in the development of cardiovascular disease. Coagulation Factor V is an enzyme cofactor of the coagulation system and contributes to a normal haemostatic balance. The His1299Arg polymorphism in the Factor V gene has been identified and linked to hereditary thrombophilia. The aim of the present study is to determine the prevalence of HR2 haplotype and allele frequency of His1299Arg polymorphism in the Factor V gene among randomly selected healthy individuals from Taif population which belonging to western region of Saudi Arabia. Genotyping of this SNP was carried out via CVD StripAssay, which based on a polymerase chain reaction-reverse hybridization technique. Two hundred healthy unrelated individuals were included in the study. Seventeen out of the studied population (8.5%) had the HR2 haplotype; 14 (7%) were heterozygous (R1/R2), and three (1.5%) were homozygous (R2/R2), with an allelic frequency of 0.05. This is the first report for a Saudi Arabian population that estimates the prevalence of HR2 haplotype and its allele frequencies. In conclusion, the His1299Arg mutant was noticeable within population of western Saudi Arabia. Further larger studies are needed to (1) estimate the prevalence of this mutant among individuals belonging to different KSA locations (2) assess the relative contribution of this mutational event separately and in combination with other thrombophilic polymorphisms in the etiology of cardiovascular disease in KSA.

Effect of altitude on some male fertility related traits in Saudi ovine and caprine species

Abstract This study aimed to evaluate the effect of altitude on some male fertility related traits in Saudi sheep and goats. Testicular tissues were collected from a slaughterhouse in Taif governorate (1800 m above sea level) and Makkah governorate (sea level). Sperm characteristics (1 - individual motility, 2 - percent live sperm 3 - percent abnormal sperm) were examined. Semi-quantitative RT -PCR assay was used to evaluate the expression of IGF-II, StAR, LDLr and CYP11A genes. No significant effect of altitude on tested sperm parameters was revealed. Expression of IGF-II gene in both sheep and goats was significantly (P<0.05) higher at sea level compared to high altitude. A similar effect of altitude on StAR gene expression was only observed in goats, while in sheep the level of effect did not reach the significance threshold. Moreover, LDLr gene expression was significantly (P<0.05) higher for both sheep and goats at high altitude than at sea level. The CYP11A gene expression was significantly (P<0.05) higher in high altitude sheep than in those raised at sea level, while the opposite trend was observed for goats. In conclusion, high altitude had an effect on the expression of some studied male fertility related genes, but sperm parameters were not significantly affected.