Mutational analysis of androgen receptor gene in four Chinese patients with male pseudohermaphroditism

Fertility and Sterility

Volumn 93, Issue 6, 2010, Pages 2076.e1-2076.e4

  Wu, Xueyan ^a   Zhou, Qi ^a   Mao, Jiangfeng ^a   Lu, Shuangyu ^a   Nie, Min ^a  

^a BEIJING HOSPITAL   (China)

Author keywords

Androgen insensitivity syndrome; AR gene; mutation

Indexed keywords

ANDROGEN RECEPTOR; GENOMIC DNA;

ADOLESCENT; ADULT; ANDROGEN INSENSITIVITY SYNDROME; ARTICLE; CASE REPORT; CHINESE; DISEASE ASSOCIATION; DNA EXTRACTION; DNA SEQUENCE; FEMALE; GENE MUTATION; HUMAN; LEUKOCYTE; MALE; MALE PSEUDOHERMAPHRODITISM; MUTATIONAL ANALYSIS; NUCLEOTIDE SEQUENCE; POINT MUTATION; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL;

EID: 77950299917     PISSN: 00150282     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.fertnstert.2009.11.025     Document Type: Article

References (12)

1. Lubahn D.B., Joseph D.R., Sullivan P.M., Willard H.F., French F.S., and Wilson E.M. Cloning of human androgen receptor complementary DNA and localization to the X chromosome. Science 240 (1988) 327-330
2. Shah R., Woolly M.M., and Costin G. Testicular feminization. the androgen insensitivity syndrome. J Pediatr Surg 27 (1992) 757
3. Brinkmann A.O. Molecular basis of androgen insensitivity. Mol Cell Endocrinol 179 (2001) 105-109
4. Tsai M.J., and O'Malley B.W. Molecular mechanisms of action of steroid/thyroid receptor superfamily members. Annu Rev Biochem 63 (1994) 451-486
5. Ghirri P., and Brown T.R. Improved detection of point mutations in the human androgen receptor gene by denaturing gradient gel electrophoresis of DNA heteroduplexes under stringent denaturing conditions. Paed Res (1993) 33 (Suppl):Abstr 95
6. Ko T.M., Yang Y.S., Wu M.Y., Kao C.H., Hsu P.M., Chuang S.M., et al. Complete androgen insensitivity syndrome. Molecular characterization in two Chinese women. J Reprod Med 42 (1997) 424-428
7. Hannema S.E., Scott I.S., Hodapp J., Martin H., Coleman N., Schwabe J.W., et al. Residual activity of mutant androgen receptors explains wolffian duct development in the complete androgen insensitivity syndrome. J Clin Endocrinol Metab 89 (2004) 5815-5822
8. Ahmed S.F., Cheng A., Dovey L., Hawkins J.R., Martin H., Rowland J., et al. Phenotypic features, androgen receptor binding, and mutational analysis in 278 clinical cases reported as androgen insensitivity syndrome. J Clin Endocrinol Metab 85 (2000) 658-665
9. Tincello D.G., Saunders P.T., Hodgins M.B., Simpson N.B., Edwards C.R., Hargreaves T.B., et al. Correlation of clinical, endocrine and molecular abnormalities with in vivo responses to high-dose testosterone in patients with partial androgen insensitivity syndrome. Clin Endocrinol 46 (1997) 497-506
10. Saunders P.T., Padayachi T., Tincello D.G., Shalet S.M., and Wu F.C. Point mutations detected in the androgen receptor gene of three men with partial androgen insensitivity syndrome. Clin Endocrinol 37 (1992) 214-220
11. Chamberlain N.L., Driver E.D., and Miesfeld R.L. The length and location of CAG trinucleotide repeats in the androgen receptor N-terminal domain affect transactivation function. Nucleic Acids Res 22 (1994) 3181-3186
12. Tut T.G., Ghadessy F.J., Trifiro M.A., Pinsky L., and Yong E.L. Long polyglutamine tracts in the androgen receptor are associated with reduced transactivation, impaired sperm production and male infertility. J Clin Endocrinol Metab 82 (1997) 3777-3782