中国人甘露糖结合蛋白基因第1外显子核苷酸序列的测定

Sequencing the exon 1 of Chinese mannose-binding protein allele

目的为了阐明中国人甘露糖结合蛋白(MBP)的基因突变对健康的影响和与疾病的关联,须测定中国人MBP基因的第1外显子的基因序列。方法应用PCR产物直接经310型全自动遗传分析仪进行DNA序列分析。结果测定了中国人甘露糖结合蛋白基因第1外显子核苷酸序列,检测到密码子54的纯合和杂合的点突变,未检测到密码子52和57的点突变。结论我们检测出中国人MBP基因第1外显子的核苷酸序列,密码子54基因的突变。

To sequence the exon 1 of Chinese mannose-binding protein (MBP) alleles. Methods The exon 1 of MBP gene was amplified by PCR and analyzed using ABI 310 genetic analyzer. Results Two genetypes wt/mt and mt/mt of codon 54 mutation in exon 1 of MBP allele were detected in Chinese individuals. Conclusion The authors are the first to report the sequence of exon 1 of Chinese MBP allele. Two genotypes of codon 54 allelic mutation have been found, but codon 52 and 57 allele mutations are not detected.