DNA mismatch repair gene hMLH3 variants in meiotic arrest

• Type: Another Publication in an International Scientific Journal
• Date: 2007

Authors

Ferras, C (Author) Other; Zhou, XL (Author) Other; sousa, m (Author) ICBAS; Lindblom, A (Author) Other; barros, a (Author) FMUP

Journal

Title: Fertility and Sterility

Vol. 88

Pages: 1681-1684

ISSN: 0015-0282

Publisher: Elsevier

Indexing

ISI Web of Knowledge - 14 Citations

Scopus - 16 Citations

Other information

Authenticus ID: P-004-5Z3

DOI: 10.1016/j.fertnstert.2007.01.063

Abstract (EN): 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. (Fertil Steril((R)) 2007;88: 1681-4. (c) 2007 by American Society for Reproductive Medicine.).

Language: English

Type (Professor's evaluation): Scientific

No. of pages: 4