汉族和回族儿童甘露糖结合凝集素基因多态性分析  

Single nucleotide polymorphisms and haplotypes of MBL gene in Han and Hui ethnic children of Han and Hui ethnics

作　　者：王红[1] 华春珍[2] 尚世强[3] 

机构地区：[1]解放军第117医院儿科,杭州310013 [2]杭州师范大学临床医学院儿科 [3]浙江大学医学院附属儿童医院中心实验室

出　　处：《解放军医学杂志》2008年第10期1216-1219,共4页Medical Journal of Chinese People's Liberation Army

基　　金：杭州市科技计划项目(2005633Q08)

摘　　要：目的分析浙江省汉族和宁夏回族自治区回族儿童甘露糖结合凝集素(MBL)基因外显子1区+223、+230和+239位点、5′端非翻译区+4位点和启动子区-221位点的单核苷酸多态性,并分析其单体基因型。方法研究对象为参加体检的105例汉族和69例回族儿童,体检时抽取静脉血1.5ml,以EDTA抗凝。MBL基因多态性分析采用序列分析法,遗传学分析采用SHEsis软件。结果汉族和回族儿童MBL基因启动子区-221位点的变异频率分别为0.095和0.123,两组人群该位点的变异频率无显著性差异(χ2=0.684,P=0.408);所有个体外显子1区+223和+239位点均无突变发现;汉族儿童外显子1区+230位点(+54密码子)的变异频率为0.167,低于回族儿童(0.268,χ2=5.223,P=0.022);基因单倍型以YA最为多见,回族儿童中其频率(0.669)低于汉族儿童(0.770,χ2=4.312,P=0.038)。结论汉族、回族儿童MBL基因-221位点的变异频率无明显差异,回族儿童+230位点的变异频率高于汉族儿童,两组人群最常见基因单倍型为YA,但在汉族人群YA频率高于回族人群。Objective To analyze the single nucleotide polymorphisms （SNPs） in promoter region, 5＇ untranslated region, exon 1 and haplotypes of mannose hinding-lectin （MBL） gene in Han nationality and Hui etbeic children in China. Methods Sixty nine Hui ethnic children from Ningxia Huizu Auto. Reg. and 105 Han children from Zhejiang Prov. were enrolled in the present study. Whole blood sampies （1.5 ml） were collected into potassium-EDTA tubes. SNPs in promoter region, 5 untranslated region and exon 1 of MBL gene were determined by sequence analysis using BigDye Mix 3730 genetic analyzer, and genetic analysis was performed using SHEsis software. Resuits The variant allele frequencies at -221 sites in Hart and Hui objects were 0. 091 and 0. 123, respectively, with no difference between the two groups （χ^2 =0. 684, P=0. 408）. No mutation was found at sites ＋223 and ＋239 in exon 1 of MBL gene in the study. The variant frequency at ＋230 site in Hui children （0. 268） was significantly higher than that in Han objects （0. 167, χ^2 =5. 223, P=0. 022）. The most common haplotype was YA, and the frequencies of YA haplotype in Han and Hui ethnic were 0. 770 and 0. 669, respectively, with significant difference between the two groups （χ^2=4. 312, P=0. 038）. Conclusion The variant allele frequency at ＋230 sites in exon 1 in Hui ethnic children is higher than that in Han subjects. The most common haplotype is YA, and the frequency of YA haplotype is higher in Han children than that in Hui subjects.

关 键 词：甘露糖结合凝集素类 单元型 多态性 单核苷酸 

分 类 号：R342.4[医药卫生—基础医学]