International Biological and Biomedical Journal
IBBJ
Medical Sciences
http://ibbj.org
1
admin
2423-4478
8
7
14
2423
13
en
jalali
1393
11
1
gregorian
2015
2
1
1
1
online
1
fulltext
en
Maternal Betaine Homocysteine Methyltransferase Gene Polymorphism as a Risk Factor for Trisomy
Genetics & Disease
Genetics & Disease
Original Article
Original Article
<p>Disorder in re-methylation process of homocysteine to methionine due to mutation in betaine homocysteine methyltransferase enzyme (BHMT) coding gene, leads to decrease in S-adenosyl methionine (SAM) synthesis which takes part in DNA methylation as a methyl donor. As a result, it can promote hypo-methylation of DNA, chromosome instability, and chromosome missegregation, which in turn is one of the main risk factors in trisomy 21 occurrence. The aim of this study was to investigate the distribution of BHMT polymorphism among mothers of Down syndrome and normal children. Genomic DNA extracted from blood samples of 45 mothers with at least one child presenting Down syndrome, as test group, and 30 mothers without affected children, as control group. G>A Single nucleotide polymorphism rs3733890 was investigated by PCR-RFLP method. The frequency of A allele was 37% in test group and 20% in control group. The frequency of G allele was 63% and 80% in test and control groups, respectively. The abundance of homozygous GG genotype was higher in control group (P= 0.03 ORGG = 1 and ORAA, AG = 1.4). Higher frequency of A allele in mothers with children affected with Down syndrome compared to control group, indicates that there might be an involvement of BHMT gene polymorphism in chromosomal nondisjunction leading to trisomy 21 children birth.</p>
Down syndrome, betaine homocysteine methyltransferase (BHMT), RFLP
39
45
http://ibbj.org/browse.php?a_code=A-10-33-2&slc_lang=en&sid=1
Freshteh
Ramezani
fereshteh.ramezani@ymail.com
10031947532846001730
10031947532846001730
No
Sadegh
Fattahi
10031947532846001731
10031947532846001731
No
Mohsen
Asouri
10031947532846001732
10031947532846001732
No
Ali Asghar
Ahmadi
ahmadi.pateur@gmail.com
10031947532846001733
10031947532846001733
No
Ramazan
Khanbabaee
khanbabaee@gmail.com
10031947532846001734
10031947532846001734
Yes