BACKGROUND: Since single nucleotide polymorphisms (SNPs) can serve as gene markers, polymorphism profiles may help scientists to identify the full collection of genes that contribute to the development of complex dise...BACKGROUND: Since single nucleotide polymorphisms (SNPs) can serve as gene markers, polymorphism profiles may help scientists to identify the full collection of genes that contribute to the development of complex diseases such as cancer. The distribution of interleukin-10 (IL-10) promoter polymorphisms in Chinese Han ethnic patients with hepatitis B virus (HBV) infection and hepatocellular carcinoma (HCC) was investigated in this study. METHODS: The polymorphisms of IL-10 promoter region were detected by pulymerase chain reaction-single strand conformation polymorphism (PCR-SSCP) and sequencing. Sixty-six health controls, 42 patients with HBV infection, 30 HCC patients, and cell line SMMC-7721 were examined this way. RESULTS: Polyrnorphisms of T/C or T/N on-872 site occurred frequently in Han ethnic population. Pulyrnorphisms were detected in HBV and HCC patients and cell line SMMC-7721. The hotspot among the pulymorphisms was inserting base A between-1058 and-1057. CONCLUSION: Polymorphisms of IL-10 promoter in HBV and HCC patients may be associated with HBV infection and HCC development.展开更多
目的对1个先天性长QT综合征家系进行分子遗传学分析。方法应用短串联重复序列（short tandem repeat，STR）连锁分析确定突变基因的位点，聚合酶链反应-单链构象多态性结合测序的方法筛选KCNH2基因的突变。结果先证者KCNH2基因在第7外...目的对1个先天性长QT综合征家系进行分子遗传学分析。方法应用短串联重复序列（short tandem repeat，STR）连锁分析确定突变基因的位点，聚合酶链反应-单链构象多态性结合测序的方法筛选KCNH2基因的突变。结果先证者KCNH2基因在第7外显子存在19bp的缺失，位于KCNH2基因编码序列1619～1637之间，同时突变基因的下游存在1个A1692G（CTA→CTG，L564L）多态位点，引起L539fs／47移码突变。突变基因来源于父亲，其兄弟为致病基因的携带者但未出现临床症状。结论KCNH2基因的L539fs／47移码突变是新突变点，是引起本家系临床症状的原因。展开更多
文摘BACKGROUND: Since single nucleotide polymorphisms (SNPs) can serve as gene markers, polymorphism profiles may help scientists to identify the full collection of genes that contribute to the development of complex diseases such as cancer. The distribution of interleukin-10 (IL-10) promoter polymorphisms in Chinese Han ethnic patients with hepatitis B virus (HBV) infection and hepatocellular carcinoma (HCC) was investigated in this study. METHODS: The polymorphisms of IL-10 promoter region were detected by pulymerase chain reaction-single strand conformation polymorphism (PCR-SSCP) and sequencing. Sixty-six health controls, 42 patients with HBV infection, 30 HCC patients, and cell line SMMC-7721 were examined this way. RESULTS: Polyrnorphisms of T/C or T/N on-872 site occurred frequently in Han ethnic population. Pulyrnorphisms were detected in HBV and HCC patients and cell line SMMC-7721. The hotspot among the pulymorphisms was inserting base A between-1058 and-1057. CONCLUSION: Polymorphisms of IL-10 promoter in HBV and HCC patients may be associated with HBV infection and HCC development.
文摘目的对1个先天性长QT综合征家系进行分子遗传学分析。方法应用短串联重复序列（short tandem repeat，STR）连锁分析确定突变基因的位点，聚合酶链反应-单链构象多态性结合测序的方法筛选KCNH2基因的突变。结果先证者KCNH2基因在第7外显子存在19bp的缺失，位于KCNH2基因编码序列1619～1637之间，同时突变基因的下游存在1个A1692G（CTA→CTG，L564L）多态位点，引起L539fs／47移码突变。突变基因来源于父亲，其兄弟为致病基因的携带者但未出现临床症状。结论KCNH2基因的L539fs／47移码突变是新突变点，是引起本家系临床症状的原因。
