1993 Fiscal Year Final Research Report Summary
MOLECULAR ANALYSIS FOR HUMAN ANDROGEN RECEPTOR GENE IN CASES WITH ANDROGEN INSENSITIVITY SYNDROME
| Project/Area Number |
04671401
|
|---|
| Research Category |
Grant-in-Aid for General Scientific Research (C)
|
| Allocation Type | Single-year Grants |
|---|
| Research Field |
医学一般
|
|---|
| Research Institution | HYOGO COLLEGE OF MEDICINE |
|---|
Principal Investigator |
KOMORI Shinji HYOGO COLLEGE OF MEDICINE, DEPARTMENT OF OBSTETRICS AND GYNECOLOGY, ASSISTANT PROFESSOR, 医学部, 助手 (60195865)
|
|---|
| Co-Investigator(Kenkyū-buntansha) |
TAYA Tetsuji HYOGO COLLEGE OF MEDICINE, DEPARTMENT OF OBSTETRICS AND GYNECOLOGY, ASSISTANT PR, 医学部, 助手 (60248151)
YAMASAKI Noriyuki HYOGO COLLEGE OF MEDICINE, DEPARTMENT OF OBSTETRICS AND GYNECOLOGY, ASSISTANT PR, 医学部, 助手 (50174644)
|
|---|
| Project Period (FY) |
1992 – 1993
|
| Keywords | Androgen receptor gene / Androgen insensitivity syndrome / point mutation |
|---|
| Research Abstract |
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.
|
