title: 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.
authors.affiliation: Department of Genetics, Faculty of Medicine, University of Porto (FMUP), Porto, Portugal.
authors.forename: Cristina
authors.initials: C
authors.lastname: Ferrás
authors.forename: Xiao-lei
authors.initials: XL
authors.lastname: Zhou
authors.forename: Mário
authors.initials: M
authors.lastname: Sousa
authors.forename: Annika
authors.initials: A
authors.lastname: Lindblom
authors.forename: Alberto
authors.initials: A
authors.lastname: Barros
mesh_terms: D000328:Adult; D000818:Animals; D002352:Carrier Proteins / Q000235:genetics / Q000502:physiology*; D049109:Cell Proliferation; D053843:DNA Mismatch Repair; D005820:Genetic Testing; D006801:Humans; D007248:Infertility, Male / Q000235:genetics; D008297:Male; D008540:Meiosis / Q000235:genetics*; D008875:Middle Aged; D000070956:MutL Proteins; D020641:Polymorphism, Single Nucleotide; D013091:Spermatogenesis / Q000235:genetics
chemical_list: D002352:Carrier Proteins; C403623:MLH3 protein, human; D000070956:MutL Proteins