甘露糖结合凝集素基因多态性与中枢神经系统脱髓鞘疾病的关系研究简

目的 探讨甘露糖凝集素（mannosebinding lectin,MBL）基因多态性与中枢神经系统脱髓鞘疾病的相关性.方法 采用聚合酶链反应-限制性片段长度多态性分析（PCR-RFLP）法检测45例中枢神经系统脱髓鞘疾病和60例健康人的MBL基因多态性的分布.结果 45例中枢神经系统脱髓鞘疾病患者甘露糖凝集素基因Exon Ⅰ54位密码子点突变中,野生型（GGC/GGC）为34例,占75.56％;突变杂合子型（GGC/GAC）为10例,占22.22％;突变纯合子型（GAC/GAC）为1例,占2.22％.基因频率：GGC为86.67％,GAC为13.33％.对照组野生型（GGC/GGC）为30例,占50.00％;突变杂合子型（GGC/GAC）为28例,占46.67％;突变纯合子型（GAC/GAC）为2例,占3.33％.基因频率：GGC为73.33％,GAC为26.67％.中枢神经系统脱髓鞘疾病患者GGC/GGC基因型频率增高,而GGC/GAC基因型频率降低,差异均有统计学意义（P＜0.05）;中枢神经系统脱髓鞘疾病患者GGC等位基因频率高于健康对照组,而GAC等位基因频率低于健康对照组,差异有统计学意义（P＜0.05）.结论 MBL基因突变可能是中枢神经系统脱髓鞘疾病发病的危险因素.

The relationship analysis of mannose binding lectin gene polymorphism and central nervous system demyelinating disease

Objective To study the association between the central nervous system demyelinating disease and mannose binding lectin （MBL） gene polymorphisms.Methods MBL was genotyped using polymerase chain reaction-restriction fragment length polymorphism in 45 patients with central nervous system demyelinating disease and 60 healthy subjects.Results In the 45 cases codon point mutation of mannose binging lectin （MBL） gene Exon Ⅰ 54 with the central nervous system demyelinative diseases,wild-type （GGC/GGC） was 34 cases,accounting for 75.56％; mutantion het erozygote （GGC/GAC） was 10 cases,accounting for 22.22％; mutantion homozygote （GAC/GAC） was one case,accounting for 2.22％.Gene frequency：GGC was 86.67％,GAC was 13.33％.In the control group,the wild-type （GGC/GGC） was 30 cases,accounting for 50.00％; mutantion heterozygote （GGC/GAC） was 28 cases,accounting for 46.67％; mutation homozygote （GAC/GAC） was two cases,accounting for 3.33％.Gene frequency：GGC was 73.33％,and GAC was 26.67％.The GGC/GGC genotype frequency increased in central nervous system demyelinating disease,and the GGC/ GAC genotype frequency decreased.The differences were significant （P ＜ 0.05）.The allele frequency of GGC in disease group was higher than the healthy control group,while the GAC allele frequency was lower than that of the healthy control group.The difference was statistically significant （P ＜ 0.05）.Conclusion The mutation of the MBL gene may be a risk factor for central nervous system demyelinating disease.