Mutational analysis of betaglycan/TGF-betaRIII in premature ovarian failure.
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.
Chand
Ashwini L
AL
Prince Henry's Institute for Medical Research, Monash Medical Centre, Clayton, Victoria, Australia. ashwini.chand@princehenrys.org <ashwini.chand@princehenrys.org>
Robertson
David M
DM
Shelling
Andrew N
AN
Harrison
Craig A
CA
D000328:Adult; D015331:Cohort Studies; D004252:DNA Mutational Analysis; D005260:Female; D020022:Genetic Predisposition to Disease / Q000453:epidemiology / Q000235:genetics; D005820:Genetic Testing / Q000379:methods; D006801:Humans; D009520:New Zealand / Q000453:epidemiology; D020641:Polymorphism, Single Nucleotide / Q000235:genetics; D015995:Prevalence; D016649:Primary Ovarian Insufficiency / Q000453:epidemiology* / Q000235:genetics*; D011509:Proteoglycans / Q000235:genetics*; D018125:Receptors, Transforming Growth Factor beta / Q000235:genetics*; D018570:Risk Assessment / Q000379:methods*; D012307:Risk Factors
D011509:Proteoglycans; D018125:Receptors, Transforming Growth Factor beta; C071736:betaglycan