Document Detail

A case-control study of membrane cofactor protein mutations in two populations of patients with early pregnancy loss.
MedLine Citation:
PMID:  21840606     Owner:  NLM     Status:  MEDLINE    
Mouse models have demonstrated a strong link between complement activation and pregnancy loss. The purpose of this study was to assess if mutations or polymorphisms in the complement regulatory gene membrane cofactor protein (MCP) are associated with recurrent miscarriage (RM) or sporadic fetal loss (FL). This was a case-control study comprising two different populations of cases and controls: subjects with recurrent miscarriage (RM) and controls and maternal-fetal pairs with early fetal loss (at 10-20 weeks' gestation) and controls. In the RM cases and controls, we studied maternal DNA extracted from either whole blood or saliva samples. In the FL cases and controls, fetal DNA was obtained from evacuated products of conception (cases) or cord blood (controls). Exons from the MCP gene, previously identified as having functional mutations, were amplified with flanking primers, purified, and sequenced. Sequences were analyzed against the published reference sequence, the presence of known mutations and polymorphisms and novel polymorphisms. We enrolled and obtained maternal DNA from 75 women with RM and 115 controls. In the FL group, we identified 33 cases and 37 controls. We detected the previously described A304V variant, but neither genotype nor allele frequencies differed significantly between cases and controls in any of the populations (RM, FL (maternal) or FL (fetal)). Although other variants and mutations in MCP were identified, no significant differences were found between the groups. Thus, we conclude that the A304V mutation in the MCP gene is not strongly associated with RM or FL.
Cara C Heuser; Alexandra G Eller; Jennifer Warren; D Ware Branch; Jane Salmon; Robert M Silver
Related Documents :
21756106 - The repatterning of eukaryotic genomes by random genetic drift.
21667306 - Low frequency of pik3ca gene mutations in hepatocellular carcinoma in chinese population.
21637536 - Superoxide dismutase, catalase, glutathione peroxidase and gluthatione s-transferases m...
21676446 - Polymorphisms in the p450 c17 (17-hydroxylase/17, 20-lyase) gene: association with estr...
15806156 - P53 deficiency does not affect mutation rate in the mouse germline.
7538376 - Fluorescence-based oligonucleotide ligation assay for analysis of cystic fibrosis trans...
Publication Detail:
Type:  Clinical Trial; Journal Article     Date:  2011-08-15
Journal Detail:
Title:  Journal of reproductive immunology     Volume:  91     ISSN:  1872-7603     ISO Abbreviation:  J. Reprod. Immunol.     Publication Date:  2011 Sep 
Date Detail:
Created Date:  2011-09-07     Completed Date:  2011-12-30     Revised Date:  2012-10-09    
Medline Journal Info:
Nlm Unique ID:  8001906     Medline TA:  J Reprod Immunol     Country:  Ireland    
Other Details:
Languages:  eng     Pagination:  71-5     Citation Subset:  IM    
Copyright Information:
Copyright © 2011 Elsevier Ireland Ltd. All rights reserved.
University of Utah Department of Obstetrics and Gynecology, Salt Lake City, UT 84132, USA.
Export Citation:
APA/MLA Format     Download EndNote     Download BibTex
MeSH Terms
Abortion, Habitual / genetics*
Amino Acid Substitution*
Antigens, CD46 / genetics*
Case-Control Studies
Embryo Loss / genetics*
Exons / genetics*
Mutation, Missense*
Polymorphism, Genetic
Grant Support
Reg. No./Substance:
0/Antigens, CD46; 0/CD46 protein, human

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine

Previous Document:  Human endogenous retrovirus K (HERV-K) is expressed in villous and extravillous cytotrophoblast cell...
Next Document:  Cumulative life stress in chronic fatigue syndrome.