Mutations in KISS1 are not responsible for idiopathic hypogonadotropic hypogonadism in Chinese patients

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• 作者：Yiming Zhang (1) (2)
  Haobo Zhang (1)
  Yingying Qin (1)
  Yingchun Zhang (2)
  Xinxia Chen (1) (3)
  Weiping Li (4)
  Zi-Jiang Chen (1) (4)
  
  1. 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
  2. Department of Reproductive Medicine ; Jinan Central Hospital Affiliated to Shandong University ; 105 Jiefang Road ; Jinan ; 250013 ; China
  3. Shandong University ; 44 Wenhuaxi Road ; Jinan ; 250012 ; China
  4. Renji Hospital ; Shanghai Jiao Tong University School of Medicine ; Shanghai ; 200127 ; China
  
• 关键词：Idiopathic hypogonadotropic hypogonadism ; KISS1 ; Mutation ; Single ; nucleotide polymorphism
• 刊名：Journal of Assisted Reproduction and Genetics
• 出版年：2015
• 出版时间：March 2015
• 年：2015
• 卷：32
• 期：3
• 页码：375-378
• 全文大小：135 KB
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• 刊物类别：Medicine
• 刊物主题：Medicine & Public Health
  Gynecology
  Developmental Biology
  Human Genetics
  
• 出版者：Springer Netherlands
• ISSN：1573-7330

文摘

Purpose 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.