Abstract
An exonic single nucleotide substitution in the human androgen receptor gene (hAR) could be detected in an Italian family with two children affected by complete androgen insensitivity syndrome (CAIS), also called testicular feminization. This mutation leads to a guanine to adenine transition in exon 5, changing the sense of the codon from methionine (ATG) to valine (GTG). As this mutation abolishes a NcoI restriction site, a rapid test for the mutation can be performed by digestion of the polymerase chain reaction products with this enzyme. Previous results of indirect gene diagnosis in this family could be confirmed by this method.
References
Chang C, Kokontis J, Liao S (1988) Structural analysis of complementary DNA and amino acid sequences of human and rat androgen receptors. Proc Natl Acad Sci USA 85:7211–7215
Dörk T, Wullbrand U, Richter T, Neumann T, Wolfes H, Wulf B, Maass G, Tümmler B (1991) Cystic fibrosis with three mutations in the cystic fibrosis transmembrane conductance regulator gene. Hum Genet 87:441–446
Lubahn DB, Joseph DR, Sullivan PM, Willard HF, French FS, Wilson EM (1988) Cloning of human androgen receptor complementary DNA and localization to the X-chromosome. Science 240:237–330
Lubahn DB, Brown TR, Simental JA, Higgs HN, Migeon CJ, Wilson EM, French FS (1989) Sequence of the intron/exon junctions of the coding region of the human androgen receptor gene and identification of a point mutation in a family with complete androgen insensitivity. Proc Natl Acad Sci USA 86:9534–9538
Saiki RK, Gelfand DH, Stoffel S, Scharf J, Higuchi R, Horn GT, Mullis KB, Erlich HA (1988) Primer-directed enzymatic amplification of DNA with thermostable DNA-polymerase. Science 239:487–491
Tilley WD, Marcelli M, Wilson JD, McPhaul MJ (1989) Characterization and expression of a cDNA encoding the human androgen receptor. Proc Natl Acad Sci USA 86:327–331
Trapman J, Klaassen P, Kuiper GGJM, Korput JAGM van der, Faber PW, Rooij HCJ van, Kessel AG van, Voorhorst MM, Mulder E, Brinkmann AO (1988) Cloning, structure and expression of a cDNA encoding the human androgen receptor. Biochem Biophys Res Communun 153:241–248
Trifiro M, Prior LP, Sabbaghian N, Pinsky L, Kaufmann M, Nylen EG, Belsham DD, Greenberg CR, Wrogemann K (1991) Amber mutation creates a diagnostic MaeI site in the androgen receptor gene of a family with complete androgen insensitivity. Am J Hum Genet 40:493–499
Wieacker P, Griffin JE, Wienker T, Lopez JM, Wilson JD, Breckwoldt M (1987) Linkage analysis with RFLPs in families with androgen resistance syndromes: evidence for close linkage between the androgen receptor locus and the DXS1 segment. Hum Genet 76:248–252
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Jakubiczka, S., Werder, E.A. & Wieacker, P. Point mutation in the steroid-binding domain of the androgen receptor gene in a family with complete androgen insensitivity syndrome (CAIS). Hum Genet 90, 311–312 (1992). https://doi.org/10.1007/BF00220088
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DOI: https://doi.org/10.1007/BF00220088