Mutational analysis of BMP15 and GDF9 as candidate genes for premature ovarian failure

Ashwini L Chand; Anna P Ponnampalam; Sarah E Harris; Ingrid M Winship; Andrew N Shelling

doi:10.1016/j.fertnstert.2006.02.107

Mutational analysis of BMP15 and GDF9 as candidate genes for premature ovarian failure

Fertil Steril. 2006 Oct;86(4):1009-12. doi: 10.1016/j.fertnstert.2006.02.107.

Authors

Ashwini L Chand¹, Anna P Ponnampalam, Sarah E Harris, Ingrid M Winship, Andrew N Shelling

Affiliation

¹ Department of Obstetrics and Gynaecology, Faculty of Medical and Health Sciences, University of Auckland, New Zealand.

PMID: 17027369
DOI: 10.1016/j.fertnstert.2006.02.107

Abstract

Mutational screening of the bone morphogenetic protein 15 (BMP15) and growth differentiation factor 9 (GDF9) genes in a population with premature ovarian failure (POF) identified no new mutations. However, three single nucleotide polymorphisms in the BMP15 gene, two in the 5' untranslated region (31T>G and 71C>G) and another in exon 1 (387G>A), were found to be common in both POF and control groups.

Publication types

Controlled Clinical Trial
Research Support, Non-U.S. Gov't

MeSH terms

Adult
Bone Morphogenetic Protein 15
DNA Mutational Analysis
Female
Genetic Predisposition to Disease / epidemiology
Genetic Predisposition to Disease / genetics
Genetic Testing / methods*
Growth Differentiation Factor 9
Humans
Intercellular Signaling Peptides and Proteins / genetics*
Mutation
New Zealand / epidemiology
Prevalence
Primary Ovarian Insufficiency / epidemiology*
Primary Ovarian Insufficiency / genetics*
Risk Assessment / methods*
Risk Factors

Substances

BMP15 protein, human
Bone Morphogenetic Protein 15
GDF9 protein, human
Growth Differentiation Factor 9
Intercellular Signaling Peptides and Proteins