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

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

Research output: Contribution to journalArticle

7 Citations (Scopus)

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
StatePublished - Jan 1 1991

Fingerprint

Androgen-Insensitivity Syndrome
Gene Rearrangement
Androgen Receptors
DNA
Genes
Southern Blotting
Androgens
Mutation

ASJC Scopus subject areas

  • Reproductive Medicine
  • Obstetrics and Gynecology

Cite this

DiLauro, S. L., Behzadian, A., Tho, S. P. T., & McDonough, P. G. (1991). Probing genomic deoxyribonucleic acid for gene rearrangement in 14 patients with androgen insensitivity syndrome. Fertility and sterility, 55(3), 481-485.

Probing genomic deoxyribonucleic acid for gene rearrangement in 14 patients with androgen insensitivity syndrome. / DiLauro, S. L.; Behzadian, A.; Tho, S. P.T.; McDonough, Paul G.

In: Fertility and sterility, Vol. 55, No. 3, 01.01.1991, p. 481-485.

Research output: Contribution to journalArticle

DiLauro, SL, Behzadian, A, Tho, SPT & McDonough, PG 1991, 'Probing genomic deoxyribonucleic acid for gene rearrangement in 14 patients with androgen insensitivity syndrome', Fertility and sterility, vol. 55, no. 3, pp. 481-485.
DiLauro, S. L. ; Behzadian, A. ; Tho, S. P.T. ; McDonough, Paul G. / Probing genomic deoxyribonucleic acid for gene rearrangement in 14 patients with androgen insensitivity syndrome. In: Fertility and sterility. 1991 ; Vol. 55, No. 3. pp. 481-485.
@article{d4acec26f80849e6a23dcd31a3c1ab83,
title = "Probing genomic deoxyribonucleic acid for gene rearrangement in 14 patients with androgen insensitivity syndrome",
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.",
author = "DiLauro, {S. L.} and A. Behzadian and Tho, {S. P.T.} and McDonough, {Paul G}",
year = "1991",
month = "1",
day = "1",
language = "English (US)",
volume = "55",
pages = "481--485",
journal = "Fertility and Sterility",
issn = "0015-0282",
publisher = "Elsevier Inc.",
number = "3",

}

TY - JOUR

T1 - Probing genomic deoxyribonucleic acid for gene rearrangement in 14 patients with androgen insensitivity syndrome

AU - DiLauro, S. L.

AU - Behzadian, A.

AU - Tho, S. P.T.

AU - McDonough, Paul G

PY - 1991/1/1

Y1 - 1991/1/1

N2 - 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.

AB - 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.

UR - http://www.scopus.com/inward/record.url?scp=0025970869&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=0025970869&partnerID=8YFLogxK

M3 - Article

VL - 55

SP - 481

EP - 485

JO - Fertility and Sterility

JF - Fertility and Sterility

SN - 0015-0282

IS - 3

ER -