中国汉族、维吾尔族人群甘露聚糖结合凝素基因多态性的检测

分别收集广东省汉族和新疆维吾尔族自治区维吾尔族一般人群血标本,提取白细胞基因组DNA,以多聚酶链反应扩增目的基因片段,应用荧光探针杂交可视技术检测其甘露聚糖结合凝集素(MBL)基因54位密码点突变(GGC54GAC)。从138份汉族样本中检出GGC54GAC突变型纯合子4例,占2.9%,杂合子30例,占21.74%;120份维吾尔族标本中,检出突变型纯合子3例,占2.5%,杂合子34例,占28.33%。因此,汉族和维吾尔族人群MBL基因GGC54GAC突变的频率分别为0.138和0.167,两民族间无明显差异。

Study on the point mutation in the codon 54 mutant allele in mannan-binding lectin gene in populations of Hans and Uigurs in China

Blood samples of the populations of Hans and Uigurs were collected from Guangdong Province and Xinjiang Uigur Autonomous Region respectively and the genomic DNA was extracted from leukocytes. The target gene fragments were amplified by means of PCR, and the codon 54 mutant allele(GGC54GAC) in mannan-binding lectin (MBL) gene was detected by fluorescent probe hybridization technique with visual monitoring. It was found that the percentages of the homozygous and heterozygous genotypes of the GGC54GAC allele in MBL gene in samples of Hans population were 2.9% (4/138) and 21.74%(30/138) respectively, while in samples of Uigurs population, they were 2.8%(3/138) and 24.63% (34/138) respectively. Thus the frequencies of point mutation of the codon 54 mutant allele in exon 1 were 0.138 and 0.167 in the populations of Hans and Uigurs, showing no obvious difference for the frequencies and genotype distribution of the codon 54 allele between these two populations in China.