| 广东地区汉族人MBL基因GGC54GAC点突变的初步筛查 |
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| 引用本文： | 王方勇,陈政良,吕成伟,张丽芸,卢晓. 广东地区汉族人MBL基因GGC54GAC点突变的初步筛查[J]. 免疫学杂志, 2002, 18(Z1): 1-3 |
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| 作者姓名： | 王方勇 陈政良 吕成伟 张丽芸 卢晓 |
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| 作者单位： | 第一军医大学免疫学教研室,广东,广州,510515 |
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| 基金项目： | 广东省科技攻关项目(C30201)和广东省自然科学基金团队项目(015003)资助 |
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| 摘 要： | 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54位密码点突变(GGC54GAC)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166人中查出野生型纯合子147例,占88.55%,GGC54GAC突变杂合子19例,占11.45%,未发现GGC54GAC突变纯合子.结论广东地区汉族人群MBL基因GGC54GAC突变频率为0.057.
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| 关 键 词： | 甘露聚糖结合凝集素 GGC54GAC点突变 单链构象多态性分析 |
| 文章编号： | 1000-8861(2002)03(S)-0001-04 |
| 修稿时间： | 2002-01-11 |
Frequency of GGC54GAC point mutation of mannan-binding lectin gene in a Han population from Guangdong |
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| WANG Fang yong,CHEN Zheng liang ,LU Cheng wei,ZHANG Li yun,LU Xiao. Frequency of GGC54GAC point mutation of mannan-binding lectin gene in a Han population from Guangdong[J]. Immunological Journal, 2002, 18(Z1): 1-3 |
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| Authors: | WANG Fang yong CHEN Zheng liang LU Cheng wei ZHANG Li yun LU Xiao |
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| Affiliation: | WANG Fang yong,CHEN Zheng liang *,LU Cheng wei,ZHANG Li yun,LU Xiao |
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| Abstract: | 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. |
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| Keywords: | mannan binding lectin GGC54GAC point mutation single strand conformation polymorphism analysis |
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