Clinical and genetic characterization of six cases with complete androgen insensitivity syndrome in China
作者: Jing HeShuwu QiHuijun ZhangJingjing GuoShu ChenQi ZhangBaosheng Zhu
作者单位: 1The First People’s Hospital of Yunnan Province
2Kunming University of Science and Technology
刊名: Journal of Genetics, 2017, Vol.96 (4), pp.695-700
来源数据库: Springer Journal
DOI: 10.1007/s12041-017-0809-4
关键词: Androgen receptorComplete androgen insensitivity syndromeMutationKaryotype analysisDNA sequencing
英文摘要: The mutations of androgen receptor ( AR ) gene are the most common cause for complete androgen insensitivity syndrome (CAIS). We aimed to characterize the six cases enrolled in our hospital (the First People’s Hospital of Yunnan, China) and explore the molecular mechanism of CAIS. Between 2010 and 2013, six female cases were enrolled in our hospital for the agenesis of secondary sexual characteristics. The clinical examinations such as sex hormone test and B ultrasound were performed and the genetic characterization of patients were evaluated by karyotype analysis, polymerase chain reaction and DNA sequencing. The six cases with 46, XY karyotype were diagnosed with CAIS and four novel AR mutations were discovered, which were responsible for Chinese CAIS. The molecular study of the AR gene...
原始语种摘要: The mutations of androgen receptor ( AR ) gene are the most common cause for complete androgen insensitivity syndrome (CAIS). We aimed to characterize the six cases enrolled in our hospital (the First People’s Hospital of Yunnan, China) and explore the molecular mechanism of CAIS. Between 2010 and 2013, six female cases were enrolled in our hospital for the agenesis of secondary sexual characteristics. The clinical examinations such as sex hormone test and B ultrasound were performed and the genetic characterization of patients were evaluated by karyotype analysis, polymerase chain reaction and DNA sequencing. The six cases with 46, XY karyotype were diagnosed with CAIS and four novel AR mutations were discovered, which were responsible for Chinese CAIS. The molecular study of the AR gene...
全文获取路径: Springer  (合作)
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来源刊物:
影响因子:0.876 (2012)

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关键词翻译
关键词翻译
  • androgen 雄激素
  • insensitivity 不灵敏度
  • CAIS Canadian Association for Information Science
  • genetic 遗传的
  • complete 实行
  • clinically 临床上
  • agenesis 发育不全
  • karyotype 核型
  • hospital 医院
  • syndrome 症候群