title: [Detection and preliminary study of a family carrying a  CCR5Δ32 deletional mutation].
abstract: OBJECTIVE
  To 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.
  
  
  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 cyclosporine 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 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.
  
  
  CONCLUSIONS
  Together 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.
authors.affiliation: Department of Medical Genetics, Chinese Academy of Medical Sciences, Kunming, Yunnan, People's Republic of China.
authors.forename: Chi
authors.initials: C
authors.lastname: Zhou
authors.forename: Hao
authors.initials: H
authors.lastname: Sun
authors.forename: Jia-xiang
authors.initials: JX
authors.lastname: Yin
authors.forename: Hong-ying
authors.initials: HY
authors.lastname: Zhang
authors.forename: Ke-qin
authors.initials: KQ
authors.lastname: Lin
authors.forename: Yu-fen
authors.initials: YF
authors.lastname: Tao
authors.forename: Zhao-qing
authors.initials: ZQ
authors.lastname: Yang
authors.forename: Jia-you
authors.initials: JY
authors.lastname: Chu
authors.forename: Xiao-qin
authors.initials: XQ
authors.lastname: Huang
mesh_terms: D001483:Base Sequence; D002681:China; D005006:Ethnicity; D005260:Female; D005787:Gene Frequency; D005838:Genotype; D006801:Humans; D008297:Male; D008969:Molecular Sequence Data; D010375:Pedigree; D019713:Receptors, CCR5 / Q000235:genetics*; D017384:Sequence Deletion
chemical_list: D019713:Receptors, CCR5