Yiming Zhang1, Haobo Zhang, Yingying Qin, Yingchun Zhang, Xinxia Chen, Weiping Li, Zi-Jiang Chen. 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.
Abstract
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.
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.
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