蒙古族与回族人群MBL结构基因型及其与血浆蛋白浓度的关系  

The relationship between mannan-binding lectin gene polymorphisms and serum protein level in Mongls and Huis in China

作　　者：梁园[1] 华春珍[1] 陈兆军[1] 尚世强[2] 俞惠民[2] 

机构地区：[1]杭州师范大学临床医学院,杭州310018 [2]浙江大学医学院附属儿童医院,杭州310000

出　　处：《中国免疫学杂志》2008年第4期328-331,共4页Chinese Journal of Immunology

基　　金：杭州市科技计划重点项目(No2005633Q08)

摘　　要：目的:分析内蒙古自治区蒙古族人群和宁夏回族自治区回族人群血浆甘露聚糖结合凝集素(MBL)的结构基因型,并探讨其与血浆蛋白浓度的关系。方法:用ELISA法检测血浆MBL浓度,用序列分析法分析MBL基因外显子1区52、54和57密码子的单核苷酸多态性;统计分析采用SPSS软件11.0版,遗传学分析采用SHEsis软件。结果:79例蒙古族人和69例回族人血浆MBL浓度中位数分别为1686和1909ng/ml,两组间无显著性差异(Z=0.63,P=0.4)。蒙古族人群外显子1A/A型、A/B型和B/B型分别占62.0%、35.4%和2.5%,而回族人群A/A型、A/B型和B/B型分别占58.0%、30.4%和11.6%,蒙古族和回族人群+230位点变异频率分别为0.203和0.268,两者变异频率无显著性差异(χ2=1.772,P=0.183)。所有样本无C或D型外显子发现。A/A型外显子的血浆MBL浓度显著高于A/B型,后者又显著高于B/B型(χ2=86.526,P<0.01)。结论:蒙古族和回族人群MBL基因只有A/A,A/B和B/B3种外显子基因型,A/A型结构基因MBL浓度显著高于A/B型,又显著高于B/B型。Objective：To analyze the gene polymorphisms at code 54 of exon 1 in mannose-binding lectin（MBL） gene and the palsma MBL concentrations in Mongols and Huis in China.Methods：MBL plasma concentrations were measured by ELISA method with human MBL ELISA kit,Single nucleotide polymorphisms of MBL gene were determined with sequence analysis method.Geneticanalysis was deployed with SHEsis software,and the statistics package for social science,SPSS11.0 was used in the study.Results：The median values of MBL plasma in 79 Mongols and 69 Huis were 1 686 ng/ml and 1 909 ng/ml respectively and no significant difference was found between them（Z=0.63,P=0.4）.In 79 Mongols,the variant allele frequencies of the codon 54 of MBL gene was 0.203,62.0% of the 79 cases were A/A exon type,while 35.4% were A/B type and 2.50% were B/B type instead.In all 69 Huis,the variant allele frequencies was 0.268,58.0% of 40 cases were A/A exon type,while 30.4% were A/B type and 11.6% were B/B type instead.The frequency of point mutation at ＋230 site was 0.203.No significant difference of variant allele frequencies was found between the Mongols and Huis nationalities（χ^2=1.772,P=0.183）.Neither C nor D exon type were found in the study.The A/A wild type was associated with the highest plasma concentration with median values,the A/B type was associated with lower MBL levels and the B/B type with the lowest levels（χ^2=86.526,P〈0.01）.Conclusion：There are only three genotypes,A/A,A/B and B/B types are identified in the Mongols and Huis in the study,and A/A type has predominance higher plasma protein level than in A/B type,which is also higher than in B/B type.

关 键 词：甘露聚糖结合凝集素 单核苷酸多态性 结构基因 

分 类 号：R392.2[医药卫生—免疫学]