Polymorphisms in folate pathway genes are not associated with somatic nondisjunction in turner syndrome.

Autor: Bispo AV; Departamento de Genética, Universidade Federal de Pernambuco. Av. da Engenharia, S/N, Cidade Universitária, Recife, PE, Brazil., dos Santos LO; Departamento de Genética, Universidade Federal de Pernambuco. Av. da Engenharia, S/N, Cidade Universitária, Recife, PE, Brazil., de Barros JV; Departamento de Genética, Universidade Federal de Pernambuco. Av. da Engenharia, S/N, Cidade Universitária, Recife, PE, Brazil., Duarte AR; Unidade de Genética Pediátrica, Instituto de Medicina Integral Prof. Fernando Figueira (IMIP)-Recife, PE, Brasil., Araújo J; Unidade de Endocrinologia Pediátrica, Hospital das Cl, í, nicas HC/UFPE-Recife, PE, Brasil., Muniz MT; Centro de Oncohematologia Pediátrica de Pernambuco, Hospital Oswaldo Cruz/UPE-Recife, PE, Brasil.; Instituto de Ci, ê, ncias Biol, ó, gicas, UPE-Recife, PE, Brasil., Santos N; Departamento de Genética, Universidade Federal de Pernambuco. Av. da Engenharia, S/N, Cidade Universitária, Recife, PE, Brazil.
Jazyk: angličtina
Zdroj: American journal of medical genetics. Part A [Am J Med Genet A] 2015 Jul; Vol. 167 (7), pp. 1510-7. Date of Electronic Publication: 2015 Apr 09.
DOI: 10.1002/ajmg.a.37055
Abstrakt: Folate metabolism dysfunction can lead to DNA hypomethylation and abnormal chromosomal segregation. Previous investigations of this association have produced controversial results. Here we performed a case-control study in patients with Turner syndrome (TS) to determine the effects of genetic polymorphisms of folate pathway genes as potential risk factors for somatic chromosomal nondisjunction. TS is a useful model for this investigation because patients with TS show a high frequency of chromosome mosaicism. Here we investigated the possible association of polymorphisms of the MTHFR gene with TS risk, which has been previously investigated with controversial results. We also examined the effects of MTR, RFC1, and TYMS gene polymorphisms in TS for the first time. The risk was evaluated according to allelic and genotype (independent and combined) frequencies among 70 patients with TS and 144 age-matched healthy control subjects. Polymorphism genotyping was performed by PCR, PCR-RFLP, and PCR-ASA. The polymorphisms MTHFR 677C>T and 1298A>C, MTR 2756A>G, RFC1 80G>A, and TYMS 2R/3R-alone or in combinations-were not associated with the risk of chromosomal aneuploidy in TS. In conclusion, our present findings did not support a link between impaired folate metabolism and abnormal chromosome segregation leading to somatic nondisjunction in TS patients.
(© 2015 Wiley Periodicals, Inc.)
Databáze: MEDLINE
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