The bone morphogenetic protein 4 (BMP4) gene is related to development of female reproductive organs in animal models. However, to date, there has been no consensus on the relationship between mutations in BMP4 and premature ovarian insufficiency (POI) in human beings. To analyze variations in BMP4 in Chinese women with POI, we sequenced two coding regions of BMP4 in 99 Han Chinese women with POI after DNA extraction and amplification by polymerase chain reaction (PCR). We found no any mutation in the BMP4 coding regions. Only one SNP rs17563 was detected among women with POI. However, the allele frequency of rs17563 presented no significant differences between POI patients and the international HapMap Project data for CHB and CHD. Our findings suggest that the BMP4 gene may not represent a risk factor in the development of POI among Chinese Han women.
Keywords: BMP4; MUTATION; PREMATURE OVARIAN INSUFFICIENCY; SINGLE NUCLEOTIDE POLYMORPHISM.