Cytogenetics and molecular genetics research on 46, XX male syndrome
Objective To analyze the cytogenetics and molecular genetics features of 46,xx male syndrome and to investigate the mechanism of sexual abnormality. Methods G-banding and multiple polymerase chain reaction were used to analyze cytogenetic karyotype and to perform SRY gene amplification and AZF amplification of the Y Chromosome. Results The karyotype of this patient was 46,xx,SRY gene was positive, but AZFa, AZFb. AZFc and AZFd gene in the Y chromosome were all negative. Conclusion SRY gene is an important gene which determinates gender and differentiation. Detecting SRY gene and cytogenetic karyotype will contribute to diagnosis of sex reversal syndrome.
NETL
NSTL
万方数据
维普
