[صفحه اصلی ]   [Archive]  
:: صفحه اصلي :: درباره نشريه :: آخرين شماره :: تمام شماره‌ها :: جستجو :: ثبت نام :: ارسال مقاله :: تماس با ما ::
:: دوره 9، شماره 3 - ( 5-1399 ) ::
برگشت به فهرست نسخه ها
Folate System Gene Variant rs1801394 66A>G may have a Causal Role in Down Syndrome in the Eastern Indian Population
:   (139 مشاهده)
Down syndrome (DS) is associated with trisomy of the 21st chromosome in more than 95% cases. The extra chromosome mostly derives due to abnormal chromosomal segregation, i.e. non-disjunction, during meiosis. Earlier reports showed that abnormal folate metabolism can lead to DNA hypomethylation and abnormal chromosomal segregation. We analyzed three functional folate gene variants, namely 5-methyltetrahydrofolate-homocysteine methyltransferase rs1805087, 5-methyltetrahydrofolate-homocysteine methyltransferase reductase rs1801394, and reduced folate carrier 1 rs1051266, for contribution in the etiology of DS.  Ethnically matched subjects including DS probands (N=183), their parents (N=273), and controls (N=286) were recruited after obtaining informed written consent for participation. Karyotype analysis confirmed trisomy 21 in DS patients recruited. Genomic DNA, purified from peripheral blood leukocytes was used for genotyping of the target sites by PCR based methods, and data obtained was subjected to population- as well as family-based association analysis. Frequency of rs1801394 ‘G’ allele and ‘GG’ genotype was higher in DS probands (P < 0.0001). Statistically significant higher occurrence of the ‘G’ allele in parents of DS probands (P < 0.0001) and maternal bias in transmission of the “G” allele was also noticed (P < 0.0001). Genetic model analysis demonstrated rs1801394 “G” as a risk allele under both dominant and recessive models. DS probands also showed higher occurrence of rs1051266 “G” (P = 0.05). Quantitative trait analysis revealed significant negative influence of rs1805087 “A” on birth weight. Screening for rs1801394 “G” could be useful in monitoring the risk of DS, at least in the studied population.
متن کامل [PDF 325 kb]   (33 دریافت)    
نوع مطالعه: Original Article | موضوع مقاله: Genetics & Disease
دریافت: 1398/11/24 | پذیرش: 1399/7/5 | انتشار: 1399/5/30
ارسال نظر درباره این مقاله
نام کاربری یا پست الکترونیک شما:

CAPTCHA


XML   English Abstract   Print


Download citation:
BibTeX | RIS | EndNote | Medlars | ProCite | Reference Manager | RefWorks
Send citation to:

Chatterjee M, Saha T, Maitra S, Sinha S, Mukhopadhyay K. Folate System Gene Variant rs1801394 66A>G may have a Causal Role in Down Syndrome in the Eastern Indian Population. Int J Mol Cell Med. 2020; 9 (3)
URL: http://ijmcmed.org/article-1-1258-fa.html

Folate System Gene Variant rs1801394 66A>G may have a Causal Role in Down Syndrome in the Eastern Indian Population. مجله بین المللی سلولی و مولکولی. 1399; 9 (3)

URL: http://ijmcmed.org/article-1-1258-fa.html



دوره 9، شماره 3 - ( 5-1399 ) برگشت به فهرست نسخه ها
International Journal of Molecular and Cellular Medicine (IJMCM) International Journal of Molecular and Cellular Medicine (IJMCM)
Persian site map - English site map - Created in 0.05 seconds with 30 queries by YEKTAWEB 4227