Mutational analysis of betaglycan/TGF-betaRIII in premature ovarian failure

Ashwini L Chand; David M Robertson; Andrew N Shelling; Craig A Harrison

doi:10.1016/j.fertnstert.2006.05.080

Mutational analysis of betaglycan/TGF-betaRIII in premature ovarian failure

Fertil Steril. 2007 Jan;87(1):210-2. doi: 10.1016/j.fertnstert.2006.05.080. Epub 2006 Nov 2.

Authors

Ashwini L Chand¹, David M Robertson, Andrew N Shelling, Craig A Harrison

Affiliation

¹ Prince Henry's Institute for Medical Research, Monash Medical Centre, Clayton, Victoria, Australia. [email protected] <[email protected]>

PMID: 17084394
DOI: 10.1016/j.fertnstert.2006.05.080

Abstract

Targeted mutational screening of the inhibin-binding domain of betaglycan (exons 11 and 12) demonstrated an increased occurrence of the exon 12 194969T-->C variant in POF patients (27/54; 50%) compared to controls (8/41; 19.5%; P=.002); however, no gene variations were identified in exon 11.

Publication types

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

MeSH terms

Adult
Cohort Studies
DNA Mutational Analysis
Female
Genetic Predisposition to Disease / epidemiology
Genetic Predisposition to Disease / genetics
Genetic Testing / methods
Humans
New Zealand / epidemiology
Polymorphism, Single Nucleotide / genetics
Prevalence
Primary Ovarian Insufficiency / epidemiology*
Primary Ovarian Insufficiency / genetics*
Proteoglycans / genetics*
Receptors, Transforming Growth Factor beta / genetics*
Risk Assessment / methods*
Risk Factors

Substances

Proteoglycans
Receptors, Transforming Growth Factor beta
betaglycan