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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 preliminary screening of the codon 54 (GGC5 4GAC) of the first exon of mannan-binding lectin structural gene in Han population of Guangdong province. Methods The peripheral blood leukocyte DNA was extracted for PCR amplification of the corresponding fragments, and the products were analyzed by single strand conformation polymorphism. Results Fourteen of seventeen wild-type homozygotes were found in 16 6 individuals, accounting for 88.5%. GGC5 4GAC mutation heterozygote was 19 (11.4%), and no GGC5 4GAC mutant homozygote was found. Conclusion The mutation frequency of GGC5 4GAC of MBL gene in Guangdong Han population is 0.057.