【摘要】 目的了解我国维吾尔族人群甘露聚糖结合凝集素(MBL)结构基因外显子1第52、54和57位密码点突变(CGT52TGT、GGC54GAC和GGA57GAA)的情况。方法收集新疆维吾尔自治区维吾尔族一般人群血标本,提取白细胞基因组DNA,以PCR扩增目的基因片段并应用荧光探针杂交可视技术检测点突变。结果95例维吾尔族样本中,检出54位密码点突变纯合子2例和杂合子28例,未发现CGT52TGT和GGA57GAA点突变。结论维吾尔族人群MBL结构基因CGT52TGT、GGC54GAC和GGA57GAA点突变的频率分别为0、0.168和0。更多还原

【Abstract】 Objective To investigate the frequencies of three point mutations,CGT52TGT,GGC54GAC and GGA57GAA,in exon 1 of mannan-binding lectin(MBL)structural gene in Chinese Uyghur population.Methods Blood samples were collected from a Uyghur population in Xinjiang Uyghur Autonomous Region,and the genomic DNA was extracted from the leucocytes and the target gene fragment amplified by PCR.The three point mutations in exon 1 of MBL gene were detected by fluorogenic probe hybridization technique with visual monitoring.Results In 95 Uyghur individuals,2 were identified as homozygous for codon 54 mutations,28 were heterozygous for codon 54 mutation,and no CGT52TGT and GGA57GAA point mutations were found.Conclusion The frequencies of CGT52TGT,GGC54GAC and GGA57GAA mutant alleles in exon 1 of MBL structural gene are 0,0.168 and 0 respectively in the Chinese Uyghur population.更多还原