ПОЛИМОРФИЗМ С677Т ГЕНА МЕТИЛЕНТЕТРАФОЛАТРЕДУКТАЗЫ  ПРИ  ДЕФЕКТАХ НЕРВНОЙ ТРУБКИ В КЫРГЫЗСКОЙ ПОПУЛЯЦИИ

N. Aldasheva; S. Bokonbaeva; E. Mambetsadykova; H.  Sushanlo

doi:10.54890/.v6i6.882

N. Aldasheva S. Bokonbaeva E. Mambetsadykova H. Sushanlo

DOI:

https://doi.org/10.54890/.v6i6.882

Abstract

This study presents MTHFR folat metabolism gene gene C677T polymorplism in 20 complete (father, mother, clild) and 10 incomplete (mother, clild) families, where child had any neural tube defect as Spina Bifida or in conjunction witl malformation (total 80).

Keywords:

MTHFR gene, missense mutations, genotype, polymorplism, haplotupe, neural tube defect (NTD)

Author Biographies

N. Aldasheva, Kyrgyz-Russian Slavic University named after B.N.Yeltsin

Department of Pediatrics

S. Bokonbaeva, Kyrgyz-Russian Slavic University named after B.N.Yeltsin

Department of Pediatrics

E. Mambetsadykova, Kyrgyz-Russian Slavic University named after B.N.Yeltsin

Department of Pediatrics

H. Sushanlo, Kyrgyz-Russian Slavic University named after B.N.Yeltsin

Department of Pediatrics

References

1. Greene ND, Stanier P and Copp AJ. Genetics ofhuman neural tube defects. Hum Mol Genet2009; 18: 113-129.

2. Yaliwal LV and Desai RM. Methylenetetrahy-drofolate reductase mutations, a genetic cause for familial recurrent neural tube defects. Indian J Hum Genet 2012; 18: 122-124.

3. Shaw G.M., Rozen R., Finnell R.H., et al. Maternal vitamin use. Genetic variation of infantmethylenetetrahydrofolate reductase and a risk factor for spina bifida // Am J Epidemiolog .-1998.-Vo. 148.-P. 30-37

4. Van der Put N.M., Steegers-Theunissen R.P.,Frost P. et al. Mutated methylenetetrahydrofolate reductase as a risk factor for spina bifida // Lancet.-1995.-Vol 346.-P. 1070-71

5. Сzeizel A.E., Dudás I., Paput L. et al. Prevention of neural-tube defects with periconceptional folic acid, methylfolate, or multivitamins // Ann Nutr Metab.- 2011.- 58(4).-P. 263-271.

6. Goyette P., Pai A., Milos R., et al. Gene structure of human and mouse methylenetetrahydrofolate reductase (MTHFR) // Mamm Genome 1998.- 9.-P. 652-6.

7. Frosst P, Blom H J., Milos R,et al. A candidate genetic risk factor for vascular disease: a common mutation in methylentetrahydrofolate reduc- tase deficiency // Nat Genetic 1995.- 10.- P. 111-113

8. Weisberg I., Tran P., Christensen B. et al. A second genetic polymorphism in methylentetrahy-drofolate reductase (MTHFR) associated with decreased enzyme activity // Mol. Genet Metab.-1998.- 64.- P. 169-172.

9. Rosenberg N.A., Pritchar J.K., Weber J.L. et al. Genetic structure of human population // Science.- 2002.- vol.298 (5602).-P.2381-2385.

10. Botto L.D., Yang Q. 5,10 Methylentetrahydrofolate Reductase Gene Variants and Congenital Anomalies: A Huge Review // Am. Journal of Epidemiology.- 2000.- 151(9).-P 862-872

11. Wilcken B., Bamforth F., Li Z., et al. Gegraphical and ethnic variation of the 677C>T allele of 5,10 methylentetrahydrofolate reductase (MTHFR); finding from over 7000 newborns from 16 areas world wide // Journal Med. Genet.- 2003.- Vol.40.- P. 619-625

12. De Franchis R, Buoninconti A., Mandato C., et al. The C677T mutation of the 5,10- methylene-tetrahydrofolate reductase gene is a moderate risk factor for spina bifida in Italy // J Med Genet.- 1998.- 35.- P. 1009-13.

13. Спиридонова М.Т., Степанов В.А., Пузырев В.П. О роли полиморфных вариантов гена 5,10 – метилентетрагидрофолатредуктазы (MTFHR) в патогенезе сердечно-сосудистых заболеваний // Клиническая медицина.- 2001.- № 2.- С. 10-16

14. Махмутова Ж.С. Популяционно-генетический анализ полиморфизма гена метилентетрафолатредуктазы при дефектах невральной трубки в казахской популяции. Автореф.дисс. канд.мед.наук: Москва, 2007, 21c

15. Boduroglu K., Alikasifoglu M., Anar B. et al. Association of the 677C→T mutation on the methylenetetrahydro folate reductase gene in Turkish patients with neural tube defects // J Child Neurol.- 1999.- 14.- P.159-161.

16. Mornet E., Muller F., Lenvoisé-Furet A., et al. Screening of the C677T mutation on the methyl-enetetrahydrofolate reductase gene in French patients with neural tube defects // Hum Gene.- 1997.- 100.- P. 512-514.

17. Morrison K., Papapetrou C., Hol F.A., et al. Susceptibility to spina bifida; an association study of five candidate genes // Ann Hum Genet.- 1998.- 62.-P. 379-396.

18. Chango A., Boisson F., Barbe F. et al. The effectof 677C→T and 1298A→C mutations on plasma homocysteine and 5,10- methylenetetrahydro-folate reductase activity in healthy subjects // Br J Nutr.- 2000.- 83.- P. 593-596.

19. Van der Put N.M., Gabreels F., Stevens B.E., et al. A second common mutation in the methylene tetrahydrofolate reductase gene: an additional risk factor for neural tube defects? // Am J Hum Genet.- 1998.- 62.-P.1044-1051.