甘露(聚)糖结合凝集素外显子Ⅰ 54位密码子突变的检测方法

对人源甘露糖结合凝集素基因54位密码子点突变的情况进行测定,建立了相关实验室检测方法.采用PCR扩增目的片段,再对产物采用PCR-RFLP测定点突变.检测的哈萨克40例血样54位密码子的点突变情况:野生型为20例,占50%;突变杂合型为20,占50%;突变纯合子为0例,占0%.PCR-RFLP适合实验室检测MBL外显子I54密码子突变情况,可以作为分析依据.

The Laboratory Analysis of Mannan-binding Lectin(MBL) Exon I 54 Condon Mutation

To analyse the circumstances mannose-binding lectin gene exonI 54 condon in the healthy population,establish the measure in our laboratory.Method:obtain the fragment by PCR amplification,and then a method of PCR-RFLP was used to detecte the point mutation of MBL gene.Result:The result of determining point mutation of mannose-binding lectin gene exonI 54 condon in the 40 blood samples of SinKiang Kazak population:There are 20 samples of wild-type(50%),and 20 samples of mutation heterozygote(50%),0 sample of mutation homozygote(0%).Conclusion:The technique of PCR-RFLP is adapt to measure the mannose-binding lectin gene exonI 54 condon in our laboratory.