INVESTIGATION OF 844INS68 POLYMORPHISM OF CYSTATHIONINE BETA SYNTHASE IN FOLIC ACID PATHWAY AS A MATERNAL RIAK FACTOR OF DOWN SYNDROME AMONG IRANIAN MOTHERS

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ALE YASIN AHMAD; TAHMASBI BEYRGANI M.

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Journal: IRANIAN JOURNAL OF BIOLOGY Year:2009 | Volume:21 | Issue:5 Page(s): 885-890

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Title

INVESTIGATION OF 844INS68 POLYMORPHISM OF CYSTATHIONINE BETA SYNTHASE IN FOLIC ACID PATHWAY AS A MATERNAL RIAK FACTOR OF DOWN SYNDROME AMONG IRANIAN MOTHERS

Author(s)

ALE YASIN AHMAD | TAHMASBI BEYRGANI M. | Issue Writer Certificate

Keywords

DOWN SYNDROMEQ3

FOLIC ACIDQ2

CYSTATHIONINE BETA SYNTHASEQ3

POLYMORPHISMQ3

844INS68Q3

Abstract

DOWN SYNDROME is the most common chromosomal abnormality associated with mental retardation affecting 1/800 in live births. The origin of extra chromosome 21 has been shown to be maternal in 93% of cases, with 7% of cases due to paternal non-disjunction. Impairment in folate metabolism due to common POLYMORPHISM in enzymes coding genes in FOLIC ACID pathway is one hypothesis in etiology of chromosome 21 trisomy. CYSTATHIONINE BETA SYNTHASE is a key enzyme in this cycle. In this study, we investigated 844INS68 POLYMORPHISM this gene, in Iranian mother having DOWN SYNDROME child. We have studied 93 mothers with DS children and 116 control mothers. Genomic DNA was extracted from blood Leukocytes by salting out procedure. DNA analysis was carried out by PCR amplification of a DNA fragment containing exon 8 of the CBS gene. Prevalence of 844INS68 POLYMORPHISM was investigated in both case and control mothers group. Frequency of POLYMORPHISM were 8 (8.6%) in Iranian mother cases and 18 (15.5%) in control mothers. No Homozygous mother was found for mutation in both case and control group. Statistical analysis showed no association between 844INS68 POLYMORPHISM in cystathinine beta synthase and risk of DOWN SYNDROME in Iranian population (P=0.146).

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APA: Copy

ALE YASIN, AHMAD, & TAHMASBI BEYRGANI, M.. (2009). INVESTIGATION OF 844INS68 POLYMORPHISM OF CYSTATHIONINE BETA SYNTHASE IN FOLIC ACID PATHWAY AS A MATERNAL RIAK FACTOR OF DOWN SYNDROME AMONG IRANIAN MOTHERS. IRANIAN JOURNAL OF BIOLOGY, 21(5), 885-890. SID. https://sid.ir/paper/21082/en

Vancouver: Copy

ALE YASIN AHMAD, TAHMASBI BEYRGANI M.. INVESTIGATION OF 844INS68 POLYMORPHISM OF CYSTATHIONINE BETA SYNTHASE IN FOLIC ACID PATHWAY AS A MATERNAL RIAK FACTOR OF DOWN SYNDROME AMONG IRANIAN MOTHERS. IRANIAN JOURNAL OF BIOLOGY[Internet]. 2009;21(5):885-890. Available from: https://sid.ir/paper/21082/en

IEEE: Copy

AHMAD ALE YASIN, and M. TAHMASBI BEYRGANI, “INVESTIGATION OF 844INS68 POLYMORPHISM OF CYSTATHIONINE BETA SYNTHASE IN FOLIC ACID PATHWAY AS A MATERNAL RIAK FACTOR OF DOWN SYNDROME AMONG IRANIAN MOTHERS,” IRANIAN JOURNAL OF BIOLOGY, vol. 21, no. 5, pp. 885–890, 2009, [Online]. Available: https://sid.ir/paper/21082/en

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