DNA mismatch repair gene hMLH3 variants in meiotic arrest

Cristina Ferrás; Xiao-lei Zhou; Mário Sousa; Annika Lindblom; Alberto Barros

doi:10.1016/j.fertnstert.2007.01.063

DNA mismatch repair gene hMLH3 variants in meiotic arrest

Fertil Steril. 2007 Dec;88(6):1681-4. doi: 10.1016/j.fertnstert.2007.01.063. Epub 2007 May 7.

Authors

Cristina Ferrás¹, Xiao-lei Zhou, Mário Sousa, Annika Lindblom, Alberto Barros

Affiliation

¹ Department of Genetics, Faculty of Medicine, University of Porto (FMUP), Porto, Portugal.

PMID: 17482610
DOI: 10.1016/j.fertnstert.2007.01.063

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.

Publication types

Research Support, Non-U.S. Gov't

MeSH terms

Adult
Animals
Carrier Proteins / genetics
Carrier Proteins / physiology*
Cell Proliferation
DNA Mismatch Repair
Genetic Testing
Humans
Infertility, Male / genetics
Male
Meiosis / genetics*
Middle Aged
MutL Proteins
Polymorphism, Single Nucleotide*
Spermatogenesis / genetics

Substances

Carrier Proteins
MLH3 protein, human
MutL Proteins