Document Detail

Mutation analysis of three genes in patients with maturation arrest of spermatogenesis and couples with recurrent miscarriages.
MedLine Citation:
PMID:  21126912     Owner:  NLM     Status:  In-Process    
The primary aim of this study was to gain more insight into maturation arrest of spermatogenesis (MA) and its relationship with mutations in genes essential for meiosis. The study also investigated the possibility that mutations in human meiosis genes cause a milder phenotype and that, in such cases, meiosis could potentially be completed with the production of mature germ cells having an abnormal chromosomal constitution causing miscarriage. Among 40 patients with MA, five changes were observed that also predicted alterations at the amino acid level. However, since these changes were also present in men with normozoospermia in equal frequencies, it was assumed that these changes are single nucleotide polymorphisms. Among 46 patients with recurrent miscarriages, two additional changes were detected predicting an alteration at the amino acid level. One change was detected in controls. However, the second heterozygous change, detected in a conserved functional domain of the SYCP3 gene, was absent in >200 controls. These preliminary results stress the need to further investigate the relationship between abnormalities in meiosis genes and the formation of gametes with abnormal chromosomal constitution. More research is also necessary to determine the impact and frequency of such changes before implementing mutation screening in genetic counselling.
K Stouffs; D Vandermaelen; H Tournaye; I Liebaers; W Lissens
Publication Detail:
Type:  Journal Article; Research Support, Non-U.S. Gov't     Date:  2010-08-31
Journal Detail:
Title:  Reproductive biomedicine online     Volume:  22     ISSN:  1472-6491     ISO Abbreviation:  Reprod. Biomed. Online     Publication Date:  2011 Jan 
Date Detail:
Created Date:  2010-12-20     Completed Date:  -     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  101122473     Medline TA:  Reprod Biomed Online     Country:  Netherlands    
Other Details:
Languages:  eng     Pagination:  65-71     Citation Subset:  IM    
Copyright Information:
Copyright © 2010 Reproductive Healthcare Ltd. Published by Elsevier Ltd. All rights reserved.
Centre for Medical Genetics, Universitair Ziekenhuis Brussel, Belgium.
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