title: Mutations in KISS1 are not responsible for idiopathic hypogonadotropic hypogonadism in Chinese patients.
abstract: OBJECTIVE
  To investigate whether mutations in the KISS1 gene are present in 170 Chinese patients with idiopathic hypogonadotropic hypogonadism (IHH).
  
  
  METHODS
  Mutational screening of the KISS1 gene was performed in 170 Chinese patients with IHH (133 male cases and 37 female cases) and 187 matched controls (94 males and 93 females).
  
  
  RESULTS
  Two known single-nucleotide polymorphisms (SNP), c. 58G > A in exon 1 and c. 242C > G in exon 2, were identified. However, no difference of genotype and allelic frequencies between cases and controls was observed.
  
  
  CONCLUSIONS
  The results suggest that mutations in the coding sequence of KISS1 are not common in patients with IHH in this Chinese population.
authors.affiliation: Center for Reproductive Medicine, Provincial Hospital Affiliated to Shandong University, National Research Center for Assisted Reproductive Technology and Reproductive Genetics, China, The Key Laboratory for Reproductive Endocrinology of Ministry of Education Shandong Provincial Key Laboratory of Reproductive Medicine, 324 Jingwu Road, Jinan, 250021, China.
authors.forename: Yiming
authors.initials: Y
authors.lastname: Zhang
authors.forename: Haobo
authors.initials: H
authors.lastname: Zhang
authors.forename: Yingying
authors.initials: Y
authors.lastname: Qin
authors.forename: Yingchun
authors.initials: Y
authors.lastname: Zhang
authors.forename: Xinxia
authors.initials: X
authors.lastname: Chen
authors.forename: Weiping
authors.initials: W
authors.lastname: Li
authors.forename: Zi-Jiang
authors.initials: ZJ
authors.lastname: Chen
mesh_terms: D000328:Adult; D044466:Asian People; D002681:China; D004252:DNA Mutational Analysis; D005091:Exons; D005260:Female; D005838:Genotype; D006801:Humans; D007006:Hypogonadism / Q000235:genetics* / Q000473:pathology; D059648:Kisspeptins / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D009154:Mutation / Q000235:genetics*; D020641:Polymorphism, Single Nucleotide
chemical_list: C106628:KISS1 protein, human; D059648:Kisspeptins