Probing genomic deoxyribonucleic acid for gene rearrangement in 14 patients with androgen insensitivity syndrome

S. L. DiLauro, A. Behzadian, S. P.T. Tho, P. G. McDonough

Research output: Contribution to journalArticlepeer-review

7 Scopus citations

Abstract

Androgen insensitivity appears to involve mutations in the X-linked androgen receptor (AR) gene in genetic males. In this study; 14 patients with androgen insensitivity syndrome (unrelated patients [n = 6]; related patients [n = 8]) were studied. Ten patients had complete and 4 had partial insensitivity to androgens. Deoxyribonucleic acid samples from controls and study subjects were examined with probes specific for the AR gene domains (hAR1, hAR2, hAR3). In one subject with complete androgen insensitivity syndrome, a reduction in size of the 2.4 kilobase band hybridizing to hAR1 was noted. Southern blot analysis of these subjects, however, did not detect deletions or gene rearrangement. These results suggest that deletions detectable by Southern method are infrequent mutants of the AR gene in patients with androgen insensitivity syndrome.

Original languageEnglish (US)
Pages (from-to)481-485
Number of pages5
JournalFertility and sterility
Volume55
Issue number3
DOIs
StatePublished - Jan 1 1991

ASJC Scopus subject areas

  • Reproductive Medicine
  • Obstetrics and Gynecology

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