[Replacement of androgen receptor gene causes complete androgen insensitivity in a large family].
OBJECTIVE
To confirm the clinical diagnosis of complete androgen insensitivity syndrome (CAIS) by molecular genetic testing in a large family.


METHODS
PCR was performed to amplify the coding region of androgen gene, followed by direct sequencing in the patients with CAIS and relatives in this family.


RESULTS
A missense mutation Arg773His was identified in the patients (homozygous) and carriers (heterozygous).


CONCLUSIONS
Mutation Arg773His in the AR gene leads to CAIS in this family. Molecular genetic testing of CAIS facilitates not only prenatal genetic diagnosis but also preimplantation genetic diagnosis and offers genetic counseling for future pregnancies to abandon the transmission of the mutated X chromosome to the coming generation.
Qin
Ying-Ying
YY
Reproductive Medical Center, Affiliated Provincial Hospital, Shandong University, Jinan 250021, China.
Gao
Xuan
X
You
Li
L
Li
Yuan
Y
Yan
Jun-Hao
JH
Zhao
Yue-Ran
YR
Chen
Zi-Jiang
ZJ
D013734:Androgen-Insensitivity Syndrome / Q000235:genetics*; D004247:DNA / Q000097:blood / Q000235:genetics; D004252:DNA Mutational Analysis; D017931:DNA Primers; D005091:Exons / Q000235:genetics*; D005260:Female; D005817:Genetic Counseling; D006801:Humans; D008297:Male; D009154:Mutation; D010375:Pedigree; D016133:Polymerase Chain Reaction; D011944:Receptors, Androgen / Q000235:genetics*
D017931:DNA Primers; D011944:Receptors, Androgen; D004247:DNA