Author/Editor     Woad, Kathryn J; Pearson, Shona M; Harris, Sarah E; Geršak, Ksenija; Shelling, Andrew N
Title     Investigating the association between inhibin alpha gene promoter polymorphisms and premature ovarian failure
Type     članek
Source     Fertil Steril
Vol. and No.     Letnik 91, št. 1
Publication year     2009
Volume     str. 62-6
Language     eng
Abstract     Objective: To determine whether variants in the promoter region of the inhibin alpha gene (INHA) are associated with premature ovarian failure (POF). Design: Mutational analysis of the INHA gene promoter in women with POF. Setting: Academic institution. Patient(s): Patients with POF (n = 194) and controls (n = 162) from New Zealand and Slovenia. Intervention(s): Peripheral blood samples were screened for known polymorphisms in the INHA promoter (c.-16C-->T, c.-124A-->G, and an imperfect TG repeat at approximately -300 base pairs). Genotyping was performed by restriction fragment length polymorphism, forced restriction fragment length polymorphism, and nondenaturing high-performance liquid chromatography analysis. Main outcome measure(s): Genotypic status of INHA promoter polymorphisms. Result(s): Significant differences in INHA promoter allele frequencies were observed between POF patient populations and controls. Significant reductions in allele frequency were observed for the -16T allele (New Zealand POF) and -124G allele (total POF) and for INHA promoter haplotypes C (New Zealand POF) and D (Slovenian POF). Conclusion(s): We conclude that INHA promoter variants are associated with the development of POF.
Descriptors     OVARIAN FAILURE, PREMATURE
PROMOTER REGIONS (GENETICS)
INHIBIN
POLYMORPHISM, RESTRICTION FRAGMENT LENGTH
GENOTYPE
ALLELES
HAPLOTYPES
CHROMATOGRAPHY, LIQUID
NEW ZEALAND
SLOVENIA