汉族和维吾尔族Knops血型系统基因多态性筛查

目的了解中国人群中Knops血型系统基因(CR1基因)分布多态性以及汉族与维吾尔族之间的差异。方法采用测序方法对5份汉族样本和12份维族样本CR1基因第29外显子进行检测,同时采用序列特异性引物聚合酶链反应(polymerases chain reaction-sequence-specific primer,PCR-SSP)技术对103份汉族样本和33份维吾尔族样本的CR1基因进行分型检测。结果108份汉族样本,CR1基因4646位均为A/A纯合,4780位A/A纯合73份(67.6%)、A/G杂合31份(28.7%)、G/G纯合4份(3.7%);针对45份维吾尔族样本的2个位点(4646位和4870位),分别有36份(80%)和34份(75.6%)A/A纯合、8份(17.8%)和7份(15.5%)A/G杂合、1份(2.2%)和4份(8.9%)G/G纯合被检出。结论汉族和维族人群的Knops血型系统在CR1基因4870位均存在多态性,而维吾尔族人群同时在4646位上存在多态性。中国人Knops血型系统基因型相对稳定,但汉族和维吾尔族之间存在差异。

The gene polymorphism of Knops blood system between Han and Uighur population in China

Objective To investigate the distribution of Knops blood group system genes ( CR1 gene) in Chinese and the differences between Han and the Uighur population. Methods Five Han samples and 12 Uighur samples were analyzed by sequencing the 29th exon of the CR1 gene. PCR-SSP was used to determine the CR1 genotypes of 103 Han samples and 33 Uighur samples. Results All of the 108 Han samples were A/A homozygotes at site 4646, but at site 4870, there were 73 A/A homozygotes(67.6% ), 31 A/G heterozygotes(28.7% ) and 4 G/G homozygotes( 3. 7% ). For the 45 Uighur samples, 36(80% ) and 34(75. 6% ) A/A homozygotes, 8( 17. 8% ) and 7( 15.5) A/G heterozygotes, 1(2. 2% ) and 4(8. 9% ) GG homozygotes were found at site 4646 and site 4780, respectively. Conclusion The diversity at site 4870 of CR1 gene has been identified in Chinese. Besides, an additional single nucleotide polymorphism ( SNP) at site 4646 is found specific for Uighur people. The Knops blood group system genotypes are relatively stable in Chinese, while difference exists between Han and Uighur people.