一个携带CCR5△32突变家系的发现及初步研究  

Detection and preliminary study of a family carrying a CCRS△32 deletional mutation

作　　者：周弛[1] 孙浩[1] 尹家祥[2] 张洪英[2] 林克勤[1] 陶玉芬[1] 杨昭庆[1] 褚嘉祐[1] 黄小琴[1] 

机构地区：[1]中国医学科学院北京协和医学院,医学生物学研究所医学遗传室,昆明650118 [2]云南省地方病防治所

出　　处：《中华医学遗传学杂志》2012年第4期485-489,共5页Chinese Journal of Medical Genetics

基　　金：国家高技术研究发展计划（863计划）资助（2009AA022708）

摘　　要：目的调查云南地区汉族和傣族CCR5△32等位基因和基因型频率分布特点，建立所发现的CCR5△32家系的永生细胞株。方法在云南地区采集健康无关个体，其中弥渡地区汉族个体346名，盈江地区傣族个体355名。应用PCR对样本群体的CCR5基因编码区进行扩增，检测CCR5△32基因突变，然后结合DNA测序对PCR检测结果进行验证。对所发现的家系，采用向B淋巴细胞中加入EB病毒和环胞霉素A的方法，建立该家系的永生细胞株，并检测传代细胞与家系血液中的CCR5△32有无改变。结果在云南汉族群体中发现1例CCR5△32杂合子，以此为先证者追踪到1个携带CCR5△32突变的家系，成功建立了该家系的9个永生细胞株，且细胞株突的变类型与血液一致。结论综合本研究和其他相关报道，发现CCR5△32的分布具有明显的群体差异；成功建立的永生细胞株可为后续研究提供实验材料。Objective To investigate the frequencies of chemokine （C-C motif） receptor 5 gene （CCR5）△32 deletional mutation of in Han and Dai populations from Yunnan province. Immortalized cell lines were derived from a family carrying the CCR5△32 mutation. Methods Blood samples of 346 Han and 355 Dai individuals were collected for genotyping. The coding regions of CCR5 gene were amplified with PCR followed by agarose gel electrophoresis. Suspected mutations were verified with DNA sequencing. Immortalized cell lines were constructed by using Epstain Barr virus and eyclosporine A. The difference between the cell lines and original blood samples was verified with PCR. Results One ethnic Han individual was confirmed to be heterozygous for a deletional mutation by sequencing, which has led to discovery of a family with CCR5△32. Nine immortalized cell lines were established from this family, and no difference between the cell lines and original blood samples was detected by PCR. Conclusion Together with previous reports, this study has indicated a significant difference in CCR5△32 among different ethnic groups in China. Established immortalized cell lines can also provide material for future research.

关 键 词：CCR5△32突变 EB病毒 永生细胞株 基因多态性 

分 类 号：R596[医药卫生—内科学]