Paper Information

Journal:   CELL JOURNAL (YAKHTEH)   WINTER 2011 , Volume 12 , Number SUPPLEMENT 1 (THE 1ST INTERNATIONAL STUDENT CONGRESS ON CELL AND MOLECULAR MEDICINE); Page(s) 69 To 69.
 
Paper: 

GENETICS IN MEDICINE: P-66: COMBINED CBS844INS68 AND MTRRA66G POLYMORPHISMS IN FOLIC ACID PATHWAY PREVENT DOWN SYNDROME

 
 
Author(s):  TAHMASEBI M.*, ALE YASIN A., GHAZANFARI M.
 
* NATIONAL INSTITUE OF GENETIC ENGINEERING AND BIOTECHNOLOGY, GENETIC DEPARTMENT, TEHRAN, IRAN
 
Abstract: 

Objective: Down syndrome is the most common cause of mental retardation observedapproximately 1 in 800 live births. The cause of Down syndrome is chromosome 21 trisomy has been shown to be maternal in 86% of cases. Common polymorphisms in folate genes have been suggested as maternal risk of chromosomal nondisjunction in some population.
Materials and Methods: In present study, we investigated the association of combined CBS 844ins68 and MTRR A66G polymorphisms in folic acis pathway among 65 Iranian mothers having Down syndrome children and 85 aged matched control mothers.
Results: Statistical analysis showed that frequency of ins+ allele in CBS and G allele in MTRR were higher in control mother than case group. Combined CBS ins+/- genotype with MTRR AG genotype was significantly was higher in control mothers (p value=0.039) but MTRR GG genotype together with CBS ins+/- was not significant (p value > 0.05).
Conclusion: Our data suggest GG genotype maybe lethal and CBS 844Ins68, MTRR A66G provided protective association for genotype Ins+/-, AG. This information is important for better understanding of etiology of Down syndrome.

 
Keyword(s): DOWN SYNDROME, FOLIC ACID, POLYMORPHISMS, 844INS68 AND 2756A>G
 
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