Analysis of AR gene variant in an infant with complete androgen insensitivity syndrome.
10.3760/cma.j.issn.1003-9406.2019.04.017
- Author:
Yanjie XIA
1
;
Shuang HU
;
Chen CHEN
;
Ning LIU
;
Xiangdong KONG
Author Information
1. Prenatal Diagnosis Center, the First Affiliated Hospital of Zhengzhou University, Zhengzhou, Henan 450052, China. Email: kongxd@263.net.
- Publication Type:Case Reports
- MeSH:
Androgen-Insensitivity Syndrome;
genetics;
Base Sequence;
Exons;
Humans;
Infant;
Male;
Polymerase Chain Reaction;
Receptors, Androgen;
genetics
- From:
Chinese Journal of Medical Genetics
2019;36(4):360-362
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVE:To detect potential variant of AR gene in an infant with complete androgen insensitivity syndrome.
METHODS:The coding regions and splicing sites of the AR gene were subjected to PCR amplification and direct DNA sequencing. Fluorescence quantitative PCR was also used to detect copy number alterations of exons 2 to 8 of the AR gene.
RESULTS:Deletion of exons 2 to 8 was detected in the proband, and the results were verified among the family members.
CONCLUSION:Hemizygotic deletion of exons 2 to 8 of the AR gene probably underlies the complete androgen insensitivity syndrome in this infant.
