Researchers at University of Basel target androgen-insensitivity syndrome
2009 JUL 10 - (NewsRx.com) -- According to recent research published in the Journal of Andrology, "Complete androgen insensitivity syndrome is an X-linked inherited disorder caused by mutations in the androgen receptor (AR) gene. Using polymerase chain reaction single-strand DNA conformational polymorphism and DNA sequencing, we identified a novel nonsense mutation in exon 1 of the AR gene in 2 Iranian brothers with complete androgen insensitivity syndrome." "Despite a normal 46,XY karyotype, testes, and normal to elevated plasma levels of testosterone, they were born with female external genitalia and phenotype. This new mutation, a T-to-A transversion in exon 1, causes amino acid change of tyrosine (TAT) to ochre stop codon (TAA) at position 514 of the AIR polypeptide. The Y514X mutation is located in a region that is normally important for the formation and function of the hormone receptor complex," wrote R. Radpour and colleagues, University of Basel. The researchers concluded: "We conclude that the novel Y514X mutation in the androgen receptor is the cause of complete androgen insensitivity syndrome in this family." Radpour and colleagues published their study in the Journal of Andrology (Identification of a Critical Novel Mutation in the Exon 1 of Androgen Receptor Gene in 2 Brothers With Complete Androgen Insensitivity Syndrome. Journal of Andrology, 2009;30(3):230-232). For additional information, contact R. Radpour, University of Basel, Women's Hospital, Laboratory Prenatal Med & Gynecology Oncology, Dept. of Biomedical, CH-4031 Basel, Switzerland. The publisher's contact information for the Journal of Andrology is: American Society Andrology, Inc., C, O Allen Press, Inc. PO Box 368, Lawrence, KS 66044, USA. Keywords: Switzerland, Basel, Androgen Insensitivity Syndrome, Androgen-insensitivity Syndrome, Andrology, DNA Research, DNA Sequence Proteomics, Deoxyribonucleic Acid, Diagnosis, Diagnostics, Drugs, Endocrinology, Enzyme Research, Genetics, Pharmaceuticals, Polymerase, Testosterone, Therapy, Treatment, University of Basel. This article was prepared by Genomics & Genetics Weekly editors from staff and other reports. Copyright 2009, Genomics & Genetics Weekly via NewsRx.com.
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