微阵列比较基因组杂交联合荧光原位杂交分析一例性发育异常患者的染色体结构畸变  

Analysis of Chromosome aberration in a patient with disorder of sex development with fluorescence in situ hybridization and array comparative genomic hybridization

作　　者：王丽[1] 罗福薇[1] 耿茜[1] 吴维青[1] 李素丽[1] 陈武斌[1] 谢建生[1] 

机构地区：[1]深圳市妇幼保健院中心实验室,广东深圳518048

出　　处：《中国优生与遗传杂志》2014年第3期66-68,F0002,共4页Chinese Journal of Birth Health & Heredity

摘　　要：目的分析一例性发育异常患者的染色体畸变,探讨该患者性发育异常的可能遗传学机理。方法采集性发育异常患者外周血,并抽提基因组DNA,进行荧光原位杂交和微阵列比较基因组杂交,分析染色体异常。结果在部分细胞中,荧光原位杂交显示患者染色体Yq12区域片段重复,微阵列比较基因组杂交显示染色体Yq11.21-q11.23区域存在长14.582 Mb的重复片段(chrY∶12611424-27193624,包括基因USP9Y到PRY基因)。结论该45,XO嵌合体的性发育异常患者一个细胞系中,新发生衍生Y染色体结构为Yqter→Yq11.21∶∶Yp11.31→Yqter。荧光原位杂交联合微阵列比较基因组杂交技术可以检测染色体复杂的微小畸变,值得临床推广应用。Objective： To analyze the Chromosome aberration in a patient with disorder of sex development（ DSD）,and to explore the causes for DSD. Methods： Genomic DNA was extracted from peripheral leukocytes of the patient. Chromosome aberration was analyzed by fluorescence in situ hybridization（ FISH） and array comparative genomic hybridization（ array CGH）. Results： It was detected that there were a duplication of Yq12 by FISH and a 14. 582 Mb duplication of Yq11. 21- q11. 23 by array CGH in chromosome Y in partial cells. Conclusion： The structure of the derivative chromosome Y in 45,X0 mosaic DSD patient was Yqter → Yq11. 21∶ ∶ Yp11. 31→Yqter,and FISH and array CGH could be used widely to detect chromosome micro- aberration.

关 键 词：性发育异常 染色体畸变 微阵列比较基因组杂交 荧光原位杂交 

分 类 号：R394.3[医药卫生—医学遗传学]