广东地区汉族人MBL基因GGC54GAC点突变的初步筛查

Frequency of GGC54GAC point mutation of mannan-binding lectin gene in a Han population from Guangdong

目的 对广东地区汉族人群的甘露聚糖结合凝集素结构基因第一外显子第 5 4位密码点突变 (GGC5 4GAC)进行初步筛查。方法 提取外周血白细胞DNA进行相应片段的PCR扩增 ,再对产物进行单链构象多态性分析。结果 在 16 6人中查出野生型纯合子 14 7例 ,占 88.5 5 % ,GGC5 4GAC突变杂合子 19例 ,占 11.4 5 % ,未发现GGC5 4GAC突变纯合子。结论 广东地区汉族人群MBL基因GGC5 4GAC突变频率为 0 .0 5 7。

Objective To screen the point mutation at the codon 54(GGC54GAC) in the first exon of the mannan binding lectin (MBL) gene in Hans from Guangdong. Methods Blood samples were obtained from a Han population from Guangdong, genomic DNA was isolated from leucocytes and the point mutation at coden 54 in MBL gene was detected by polymerase chain reaction single strand conformation polymorphism (PCR SSCP) analysis. Results There was a significant difference between the bands corresponding to the mutation allele and the wild type allele. 147 wild type alleles and 19 heterozygous alleles were identified respectively in 166 samples. No mutative homozygous allele was found. Conclusion The frequency of GGC54GAC point mutation of MBL gene in Hans from Guangdong was 0.057.