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 |