乙型肝炎病毒基因组中罕见大片段缺失突变的分析

Analysis of rare mutation of large fragment deletion in the genome of hepatitis B virus

目的对来源于一例慢性乙型肝炎患者的包含罕见大片段缺失的乙肝病毒(HBV)全基因组进行序列分析。方法提取乙肝病毒基因组DNA,扩增全长基因组,通过单克隆化分析不同准种中大片段缺失的位点和长度;将包含两段缺失突变的片段分别进行扩增,通过扩增产物的序列分析验证准种分析的结果。结果该标本的HBV基因组中的确存在超过1.4kb的大片段缺失突变,其中P基因上存在nt2449～489的1256 bp的缺失突变,C基因上存在大约nt2088～2298的209 bp的缺失突变。结论该患者HBV基因组中存在罕见大片段缺失突变。

Objective To analyze the whole genome sequence of hepatitis B virus（HBV） including rare large fragment deletion from a patient with chronic hepatitis B.Methods Genomic DNA was extracted from HBV and the whole genome was amplified.The sites and sizes of large fragment deletion in different quasispecies were subjected to monoclonal analysis.Fragments including two deletion mutations were amplified respectively,and the results of quasispecies analysis were confirmed by sequencing analysis of amplified products.Results Mutation of over 1.4 kb large fragment deletion exactly existed in HBV genome of this sample,with 1 256 bp nt2449-489 mutation in P gene and about 209 bp nt2088-2298 deletion mutation in C gene.Conclusion There is a mutation of rare large fragment deletion in HBV genome of the patient.