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Clinical and genetic characterization of six cases with complete androgen insensitivity syndrome in China

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收录情况： ◇ SCIE

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机构： [1]Genetic Diagnosis Center, Yunnan Provincial Key Laboratory for Birth Defects and Genetic Diseases, The First People’s Hospital of Yunnan Province, Kunming 650032, Yunnan, People’s Republic of China [2]Urologic Surgery, The First People’s Hospital of Yunnan Province, Kunming 650032, Yunnan, People’s Republic of China [3]Faculty of Life Science and Technology, Kunming University of Science and Technology, Kunming 650500, People’s Republic of China

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关键词： androgen receptor complete androgen insensitivity syndrome mutation karyotype analysis DNA sequencing

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 facilitated the understanding of the mechanism of CAIS and provided the genetic counselling clinically.

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出版当年[2017]版：

大类 | 4 区生物

小类 | 4 区遗传学

最新[2023]版：

大类 | 4 区生物学

小类 | 4 区遗传学

JCR分区：

出版当年[2016]版：

Q4 GENETICS & HEREDITY

最新[2023]版：

Q4 GENETICS & HEREDITY

影响因子： 1.4 最新[2023版] 1.3 最新五年平均 0.995 出版当年[2016版] 1.225 出版当年五年平均 1.108 出版前一年[2015版] 0.672 出版后一年[2017版]

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第一作者机构： [1]Genetic Diagnosis Center, Yunnan Provincial Key Laboratory for Birth Defects and Genetic Diseases, The First People’s Hospital of Yunnan Province, Kunming 650032, Yunnan, People’s Republic of China

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