SRY gene analysis for a case with sex reversal syndrome.
- VernacularTitle:一例性反转综合征SRY基因分析
- Author:
Yan CAI
1
;
Zhi-ning YANG
;
Ming-hui YANG
;
Su-hua LIANG
;
Zhong TANG
Author Information
- Publication Type:Case Reports
- MeSH: Adolescent; Amino Acid Sequence; Disorders of Sex Development; genetics; Female; Genes, sry; Humans; Molecular Sequence Data
- From: Chinese Journal of Medical Genetics 2012;29(5):573-575
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVETo investigate the molecular mechanism of sex reversal in a 46,XY female patient.
METHODSClinical data was collected. Peripheral blood lymphocytes were cultured for G-banding chromosomal analysis and DNA extraction. Sex-determining region of Y-chromosome (SRY) gene was analyzed with polymerase chain reaction (PCR) and DNA sequencing .
RESULTSAlthough the patient has a female appearance, he has a karyotype of 46,XY. The SRY gene can be detected in all samples. The 6th base of SRY gene coding region was deleted, resulting in a frameshifting mutation and premature termination of protein translation.
CONCLUSIONThe sex reversal of the patient is probably due to abnormal embryonic development caused by the SRY gene mutation.
