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


ABSTRACT: To investigate whether mutations in the KISS1 gene are present in 170 Chinese patients with idiopathic hypogonadotropic hypogonadism (IHH).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).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.The results suggest that mutations in the coding sequence of KISS1 are not common in patients with IHH in this Chinese population.

SUBMITTER: Zhang Y 

PROVIDER: S-EPMC4363243 | biostudies-literature | 2015 Mar

REPOSITORIES: biostudies-literature

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

Zhang Yiming Y   Zhang Haobo H   Qin Yingying Y   Zhang Yingchun Y   Chen Xinxia X   Li Weiping W   Chen Zi-Jiang ZJ  

Journal of assisted reproduction and genetics 20150127 3


<h4>Purpose</h4>To investigate whether mutations in the KISS1 gene are present in 170 Chinese patients with idiopathic hypogonadotropic hypogonadism (IHH).<h4>Methods</h4>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).<h4>Results</h4>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  ...[more]

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