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Genetic diagnosis and genetic counseling for androgen‐insensitivity syndrome: A report of three cases
Author(s) -
Yamaguchi Masatoshi,
Sameshima Hiroshi,
Ikenoue Tyuyomu
Publication year - 2014
Publication title -
journal of obstetrics and gynaecology research
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.597
H-Index - 50
eISSN - 1447-0756
pISSN - 1341-8076
DOI - 10.1111/jog.12249
Subject(s) - genetic counseling , exon , missense mutation , androgen insensitivity syndrome , complete androgen insensitivity syndrome , androgen receptor , genetics , nonsense mutation , polymerase chain reaction , medicine , genetic analysis , mutation , gene , bioinformatics , biology , cancer , prostate cancer
Aim In order to verify androgen‐insensitivity syndrome ( AIS ) for three individuals and their mothers, genetic diagnosis was performed after genetic counseling. Methods Polymerase chain reaction analysis was used for each exon of the androgen receptor ( AR X q11‐q12) gene. The amplified DNA fragments were detected by gel electrophoresis. The DNA fragments were sequenced and their sequences were compared with those in a database (The Androgen Receptor Gene Mutations Database World Wide Web Server). Results A missense mutation was identified in exon 7 in case 1, deletions of exons 1 and 2 were identified in case 2, and a nonsense mutation was identified in the triplet repeat region of exon 1 in case 3. The mothers of the patients were also verified to be carriers of the mutations. Conclusion Genetic diagnosis is a very useful method for diagnosing AIS . However, genetic counseling, including emotional support for the mother, is an essential component of genetic diagnosis.