Spectrum of cystic fibrosis mutations in Syrian patients.

BACKGROUND: Cystic fibrosis (CF) is the most common autosomal recessive disease in Caucasians. However, it is considered to be rare in Arabs. Reports of the cystic fibrosis transmembrane regulator (CFTR) mutations from Syrians are limited. The main aim of this study was to identify the frequency of CFTR mutations in 25 CF patients. To the best of our knowledge, this is the first comprehensive report about CF in Syrian patients. METHODS: The main clinical presentations were respiratory system symptoms (recurrent pneumonia and chronic cough) in 16 (64%) patients, failure to thrive in 15 (60%), GI system symptoms (diarrhea, steatorrhea) in 15 (60%) and nasal polyps in 1 (4%). RESULTS: A total of 36 known mutations in the CFTR gene were screened among 25 CF Syrian patients. However, 13 different CFTR mutations were identified. These mutations in order of frequency were: ΔF508 (18%), W1282X (12%), I148T (6%), CFTRdel 2.3 (6%), 2182AA→G (6%), G542X (6%), N1303K (6%), G551D (4%), G85E (4%), R117H (4%), G85E (4%), R347P (2%), M.2183AA>G (2%) and 3199del6 (2%). However, 22% of the total mutations could not be detected in this study. Moreover, 142 healthy Syrian individuals were tested for ΔF508 and G551D mutations in an attempt to determine the carrier rate in the Syrian population. These two mutations were not detected in this cohort of healthy Syrians. CONCLUSIONS: These results provide important tools for adapting a molecular diagnostic test and prenatal diagnosis for the Syrian population.

Association of Methylenetetrahydrofolate Reductase C677T and A1298C Gene Polymorphisms With Recurrent Pregnancy Loss in Syrian Women.

C677T polymorphism of the methylenetetrahydrofolate reductase ( MTHFR) gene was a risk factor for recurrent pregnancy loss (RPL), but few studies have confirmed a possible role of MTHFR A1298C polymorphism in RPL risk. This study was carried out to determine the influence of the MTHFR gene polymorphisms in RPL Syrian women. A case-control study was performed on 2 groups (106 healthy and 100 RPL women). The frequency of the MTHFR gene polymorphisms was determined by polymerase chain reaction based on restriction fragment length gene polymorphism. In the RPL group, the genotype frequencies of MTHFR C677T were CC (41%), CT (41%), and TT (18%), and in the control group, the frequencies were CC (62.2%), CT (36.7%), and TT (1%). Statistical analysis showed a homozygous TT genotype and T allele were significantly different in the RPL group ( P = .000003 and P = .000019, respectively). The genotype frequencies of MTHFR A1298C were AA (53%), AC (44%), and CC (8%) in the RPL group, whereas in the control group, these were AA (61.3%), AC (37.8%), and CC (1%). A significant difference in the CC genotype and C allelic frequencies in the RPL women was observed ( P = .014 and P = .064, respectively). The patients having compound heterozygous (677 CT/1298AC) were associated with an estimated 4.86-fold increase in risk of pregnancy loss compared to individuals with a wild type ( P = .012). Our findings indicate that RPL women with homozygous genotype for (C677T and A1298C) either alone or compound heterozygous genotypes have a high risk of pregnancy loss in Syrian women.

Frequency of three prothrombotic polymorphisms among Syrian population: factor V G1691A, prothrombin G20210A and methylenetetrahydrofolate reductase C677T.

BACKGROUND: Thrombophilia is a multi-factorial disorder caused by inherited and acquired factors. Among the inherited factors are factor V G1691A, prothrombin G20210A and methylenetetrahydrofolate reductase (MTHFR) C677T single nucleotide polymorphisms (SNPs). AIM: The main aim of this study was to assess the incidence of these three SNPs in the Syrian population. SUBJECTS AND METHODS: A total of 200 unrelated healthy Syrians (100 males and 100 females) were recruited. RESULTS: The prevalence of factor V G1691A, prothrombin G20210A and MTHFR C677T SNPs among Syrians is 11.5%, 2.5% and 84.5%, respectively. Prevalence of factor V G1691A and prothrombin G20210A SNPs among apparently healthy Syrian individuals is very high. CONCLUSION: To the best of the authors knowledge, the Syrian population harbours the highest prevalence of the MTHFR C677T polymorphism compared to all other populations reported so far.