DNA mismatch repair gene hMLH3 variants in meiotic arrest.

Abstract:

:Defects of the DNA mismatch repair gene hMLH3 were screened by denaturing high-performance liquid chromatography and sequencing in germinal tissue DNA from patients with spermatogenic arrest, with sequence variations being confirmed in genomic DNA by polymerase chain reaction (PCR) direct sequencing analysis. Four missense (2896T/C, 2531C/T) and eight intronic (IVS9+66G/A) variants were found, with the combination of 2531C/T and IVS9+66G/A being identified only in patients with primary meiotic arrest, thus suggesting that two simultaneous hMLH3 variants might predispose to spermatogenic arrest.

journal_name

Fertil Steril

journal_title

Fertility and sterility

authors

Ferrás C,Zhou XL,Sousa M,Lindblom A,Barros A

doi

10.1016/j.fertnstert.2007.01.063

subject

Has Abstract

pub_date

2007-12-01 00:00:00

pages

1681-4

issue

6

eissn

0015-0282

issn

1556-5653

pii

S0015-0282(07)00223-3

journal_volume

88

pub_type

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