Identification of Novel Mutations of AMH Gene in Iraqi Women with Premature Ovarian Failure

Abstract

An over all of thirty females experiencing idiopathic POF and thirty controls have been studied and among them only six patients and four control were sent to sequence. The AMH gene fragments AMH1, AMH2 and AMH5 generates 530 bp, 288 bp and 1080 bp respectively were amplified. Fragments were sequenced and the results show six out of eight observed SNPs was appeared missense mutations rs764149385, rs753970896, rs10407022, rs61736575, rs1438510393 and rs950459635 Whereas, the novelty of two discovered SNPs were validated, including g.2189550T>G and g.2189667T>G. the novel two SNPs has found to cause missense effect of V73G and L112W, respectively present in AMH1 fragment. While AMH2 fragments how two SNPs, including rs17854573 and rs8112524, in AMH5 fragment, five SNPs were observed, including rs1254589021, rs1478367998, rs7252789 and rs10417628, while only one SNP (g.7156-7157insC) was proven to be novel insertion-deletion SNP, synonymos and missense mutation in POF patient. Our results indicated that the POF Iraqi patients has genetic variant in AMH gene which participate in POF pathophysiology.