MOLECULAR ANALYSIS FOR HUMAN ANDROGEN RECEPTOR GENE IN CASES WITH ANDROGEN INSENSITIVITY SYNDROME

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Complete androgen insensitivity syndrome is caused by X chromosome linked disorder resulting in a target organ insensitivity to androgen. Two kinds of variants have been described in this syndrome. In the first variant, the binding of [3H] dihydrotestosterone(17beta-hydroxy-5alpha-androstan-3-one) to the androgen receptor is undetectable (receptor-negative), whereas in the second variant normal levels of androgen receptor are detectable but the binding of [3H] dihydrotestosterone to the androgen receptor is significantly thermolabile under a certain condition (receptor-positive). In receptor-negative cases, genetic disorders of androgen receptor gene have been demonstrated. On the other hand, the genetic disorder of androgen receptor in receptor-positive cases is little known. In this study, the gene structure of androgen receptor in a receptor-positive case using polymerase chain reaction technique is studied in th fibroblasts cultured from genital skin. The result demonstrated that the substitution of a nucleotide (guanine - cytosine) in exon G of the androgen receptor caused the replacement of an amino acid in position 820 (glycine - alanine) which occurred in the hormone binding domain of the androgen receptor. The substitution of th nucleotide might explain for thermolability of the androgen receptor in a case with receptor-positive androgen insensitivity syndrome.