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A novel arg616Cys mutation in the DNA-binding domain of complete androgen insensitivity syndrome in a Chinese family

A novel arg616Cys mutation in the DNA-binding domain of complete androgen insensitivity syndrome in a Chinese family
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摘要 Awide spectrum of Androgen insensitivity syndrome (AIS) occur due to mutations in the androgen receptor(AR). The clinical presentation of AIS ranges from a typically male phenotype with decreased body hair and/ or oligospermia to a typically female phenotype with primary amenorrhea and without pubic and axillary hair; Awide spectrum of Androgen insensitivity syndrome (AIS) occur due to mutations in the androgen receptor(AR). The clinical presentation of AIS ranges from a typically male phenotype with decreased body hair and/ or oligospermia to a typically female phenotype with primary amenorrhea and without pubic and axillary hair;
出处 《Chinese Medical Journal》 SCIE CAS CSCD 2013年第21期4192-4193,共2页 中华医学杂志(英文版)
关键词 androgen insensitivity syndrome androgen receptor DNA-binding domain single aminoacid substitution androgen insensitivity syndrome androgen receptor DNA-binding domain single aminoacid substitution
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参考文献5

  • 1Gottlieb B, Beitel LK, Wu JH, Trifiro M. The androgen receptor gene mutations database (ARDB): 2004 update. Hum Mut 2004; 23: 527-533.
  • 2Li BK, Ding Q, Wan XD, Wang X. Clinical and genetic characterization of complete androgen insensitivity syndrome in a Chinese family. Genet Mol Res 2011 : 10:1022-1031.
  • 3Brown C J, Goss S J, Lubahn DB, Joseph DR, Wilson EM, French FS, et al. Androgen receptor locus on the human X chromosome: regional localization to Xqll-12 and description of a DNA polymorphism. Am J Human Genetics 1989: 44: 264- 269.
  • 4Lundberg G Y, Nikoshkov A, Lindsten K, Bystrom B, Pousette A, Knudtzon J, et al. Response to treatment in patients with partial androgen insensitivity due to mutations in the DNA-binding domain of the androgen receptor. Hormone Res 2000; 53: 83-88.
  • 5Sharma V, Singh R, Thangaraj K, Jyothy A. A novel Arg615Ser mutation of androgen receptor DNA-binding domain in three 46,XY sisters with complete androgen insensitivity syndrome and bilateral inguinal hernia. Fertil Steri12011 : 95:819-821.

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