Sequence variants in exons of the BMP-15 gene in Chinese patients with premature ovarian failure.
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.


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 (CT) in exon 2 (p>0.05), or SNP rs (3810682CG: ss16336587) in the putative promoter region of exon 1, between the two groups. However, the allele gene frequency in SNP rs (3810682CG: 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.
Zhang
Peng
P
Reproductive Medical Center in Shandong Province Hospital of Shandong University, Jinan, China.
Shi
Yu-Hua
YH
Wang
Lai-Cheng
LC
Chen
Zi-Jiang
ZJ
D044466:Asian People / Q000235:genetics*; D055430:Bone Morphogenetic Protein 15; D016022:Case-Control Studies; D002681:China; D017931:DNA Primers; D005260:Female; D020022:Genetic Predisposition to Disease; D055429:Growth Differentiation Factor 9; D006801:Humans; D036341:Intercellular Signaling Peptides and Proteins / Q000235:genetics*; D017354:Point Mutation; D016133:Polymerase Chain Reaction; D016649:Primary Ovarian Insufficiency / Q000235:genetics*
C525901:BMP15 protein, human; D055430:Bone Morphogenetic Protein 15; D017931:DNA Primers; C525897:GDF9 protein, human; D055429:Growth Differentiation Factor 9; D036341:Intercellular Signaling Peptides and Proteins