Detection and preliminary study of a family carrying a CCR5Δ32 deletional mutation / 中华医学遗传学杂志

ABSTRACT

<p><b>OBJECTIVE</b>To investigate the frequencies of chemokine (C-C motif) receptor 5 gene (CCR5)&Delta;32 deletional mutation of in Han and Dai populations from Yunnan province. Immortalized cell lines were derived from a family carrying the CCR5&Delta;32 mutation.</p><p><b>METHODS</b>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.</p><p><b>RESULTS</b>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&Delta;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.</p><p><b>CONCLUSION</b>Together with previous reports, this study has indicated a significant difference in CCR5&Delta;32 among different ethnic groups in China. Established immortalized cell lines can also provide material for future research.</p>