摘要
目的:利用常规G显带技术和单核苷酸多态性微阵列分析(SNP array)联合的方法分析1例不育患者染色体异常,帮助患者查明病因,明确基因型和表现型的相关性。方法:首先采用常规G显带技术分析患者核型,再应用SNP array分析患者染色体的微小异常。结果:通过AZF区域STR位点检测和SRY基因检测发现患者都为阴性;常规G显带技术分析发现表现型为男性患者染色体核型为46,XX;SNP array结果显示患者19p12存在1.05 Mb的重复,Xq27.1存在0.93 Mb的重复。结论:通过多技术联合的方法证明患者为46,XX男性综合征,FGF13的拷贝数增加很可能是导致患者性别决定和睾丸发育异常的重要原因。
Objective： To identify the etiology of chromosome abnormality in an infertile man and analyze the correlation between the genotype and phenotype. Methods： We analyzed the karyotype of an infertile male using the routine G-banding technique and then the chromosome abnormality of the patient by Illumina Human Cyto SNP-12 Beadchip array. Results： Negative results were found in the examination of the sex-determining region Y(SRY） gene and the STR locus in the AZF zone of the patient. The karyotype of the patient was 46,XX. SNP array showed a 1. 05 Mb 19 p12 duplication and a 0. 93 Mb Xq27. 1 duplication. Conclusion： The patient was confirmed as a case of 46,XX male syndrome. The increased copies of the FGF13 gene may be the major causes of abnormal sex determination and testis development. Natl J Androl,2018,24(5） ： 431-435
作者
王任
WANG Ren(Department of Criminal Science and Technology, Railway Police College, Zhengzhou, Henan 450053, Chin)
出处
《中华男科学杂志》
CAS
CSCD
北大核心
2018年第5期431-435,共5页
National Journal of Andrology
关键词
SNP微阵列分析
46
XX男性综合征
single nucleotide polymorphism （SNP） array
46,XX male syndrome
