- VernacularTitle:一个携带CCR5△32突变家系的发现及初步研究
- Author:
Chi ZHOU
1
;
Hao SUN
;
Jia-xiang YIN
;
Hong-ying ZHANG
;
Ke-qin LIN
;
Yu-fen TAO
;
Zhao-qing YANG
;
Jia-you CHU
;
Xiao-qin HUANG
Author Information
- Publication Type:Journal Article
- MeSH: Base Sequence; China; Ethnic Groups; Female; Gene Frequency; Genotype; Humans; Male; Molecular Sequence Data; Pedigree; Receptors, CCR5; genetics; Sequence Deletion
- From: Chinese Journal of Medical Genetics 2012;29(4):485-489
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVETo investigate the frequencies of chemokine (C-C motif) receptor 5 gene (CCR5)Δ32 deletional mutation of in Han and Dai populations from Yunnan province. Immortalized cell lines were derived from a family carrying the CCR5Δ32 mutation.
METHODSBlood 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 cyclosporine A. The difference between the cell lines and original blood samples was verified with PCR.
RESULTSOne ethnic Han individual was confirmed to be heterozygous for a deletional mutation by sequencing, which has led to discovery of a family with CCR5Δ32. Nine immortalized cell lines were established from this family, and no difference between the cell lines and original blood samples was detected by PCR.
CONCLUSIONTogether with previous reports, this study has indicated a significant difference in CCR5Δ32 among different ethnic groups in China. Established immortalized cell lines can also provide material for future research.