利用PCR,FISH对异常核型中额外染色体的证实  

Confirmation of the extra small chromosome in abnormality karyotype by PCR and FISH

作　　者：薛志刚[1] 李玉梅[1] 姚仲元 龙志高[1] 戴和平[1] 邬玲仟[1] 夏昆[1] 夏家辉[1] 

机构地区：[1]中南大学医学遗传学国家重点实验室,长沙410078

出　　处：《中南大学学报（医学版）》2005年第6期657-659,共3页Journal of Central South University ：Medical Science

基　　金：国家自然科学基金(39896200)

摘　　要：目的:检测在常规G显带下,45,X[115]/46,X+m ar[45]/46,XY[29]异常核型中额外小染色体的来源。方法:利用PCR对SRY基因进行检测;对人的Y染色体进行标记,利用荧光原位杂交技术,在荧光显微镜下观察。结果:用Y染色体杂交,发现在额外小染色体上有荧光信号。结论:额外小染色体来源于Y染色体。Objective To investigate the source of the extra small chromosome in a patient with karyotype 45,X[115]/46,X＋mar[45]/46,XY[29]. Methods The SRYgene was detected by PCR, and the chromosome Y probe that labeled with biotin was detected by fluorescence in situ hybridization. Results SRY gene is detected positive and the mar chromosome showed positive signal with FISH in human chromosome Y probe pool. Conclusion The extra small chromosome is part of the chromosome Y.

关 键 词：额外小染色体 PCR 原位杂交 Y染色体 

分 类 号：R394[医药卫生—医学遗传学]