Abstract
Background. The bone morphogenetic protein-15 (BMP-15) gene is thought to be one of the important candidate genes involved in premature ovarian failure (POF). However, to date, there has been no consensus on the relationship between mutations in BMP-15 and ovarian dysfunction. Objective. To analyse mutations in the BMP-15 gene in Chinese women with POF. Materials and methods. We sequenced the BMP-15 gene protein coding region of 92 patients and 76 healthy controls that cycle regularly. Results. No mutations were found in the BMP-15 gene protein coding region. There was no difference in the incidence of single nucleotide polymorphism (SNP) rs 17003221 (C→T) in exon 2 (p>0.05), or SNP rs (3810682C→G: ss16336587) in the putative promoter region of exon 1, between the two groups. However, the allele gene frequency in SNP rs (3810682C→G: ss16336587) was C (97.92%) and G (2.08%), respectively, in Chinese women, which is different from other races. Conclusions. Our findings indicate that mutations in BMP-15 exons, or changes in BMP-15 pro-peptide, are rare in Chinese women with POF. In addition, our data suggest that the 2 SNPs are not related to POF in Chinese women, while providing evidence for SNP variation between different races.