title: A 9-bp deletion homoplasmy in women with polycystic ovary syndrome revealed by mitochondrial genome-mutation screen.
abstract: Polycystic ovary syndrome (PCOS) is a complex and heterogeneous disorder presenting a challenge for clinical investigators. To investigate the association of a mitochondrial genetic basis with PCOS, we screened mutations of the whole mitochondrial genome in 57 women patients with PCOS and 38 healthy control individuals. Two-step PCR reactions were adopted to amplify and sequence the whole mitochondrial genome. A 9-bp deletion variant appeared in homoplasmy between PCOS patients and control individuals. In the 62 individuals with complete sequences, eight of 34 (23.5%) patients showed the 9-bp deletion, compared with only two of 28 (7.1%) in healthy controls. The 9-bp deletion variant in region V of mitochondrial DNA may be associated with the heterogeneous disorder PCOS.
authors.affiliation: Center of Clinical Experimental Medicine, First People's Hospital of Hangzhou, Hangzhou, China. boyzhuo@163.com
authors.forename: Guangchao
authors.initials: G
authors.lastname: Zhuo
authors.forename: Guofang
authors.initials: G
authors.lastname: Feng
authors.forename: Jianhang
authors.initials: J
authors.lastname: Leng
authors.forename: Lin
authors.initials: L
authors.lastname: Yu
authors.forename: Yan
authors.initials: Y
authors.lastname: Jiang
mesh_terms: D001483:Base Sequence; D004272:DNA, Mitochondrial / Q000235:genetics; D005260:Female; D014644:Genetic Variation; D016678:Genome; D054629:Genome, Mitochondrial / Q000235:genetics*; D006801:Humans; D016254:Mutagenesis, Insertional; D009154:Mutation; D017354:Point Mutation; D011085:Polycystic Ovary Syndrome / Q000235:genetics*; D016133:Polymerase Chain Reaction / Q000379:methods; D020641:Polymorphism, Single Nucleotide; D012016:Reference Values; D017384:Sequence Deletion
chemical_list: D004272:DNA, Mitochondrial