Objective: To report and analyze the mutations of the double-stranded RNA-specific adenosine deaminase (DSRAD) gene in 2 Chinese pedigrees with dyschromatosis symmetrica hereditaria (DSH). Design: Pedigree study. Sett...Objective: To report and analyze the mutations of the double-stranded RNA-specific adenosine deaminase (DSRAD) gene in 2 Chinese pedigrees with dyschromatosis symmetrica hereditaria (DSH). Design: Pedigree study. Setting: Anhui province of China. Patients: Two Chinese families, consisting of 19 individuals (family 1) and 5 individuals (family 2). Interventions: We directly performed mutation detection of the DSRAD gene in 2 Chinese families with DSH by sequencing. The whole coding region of DSRAD was amplified by polymerase chain reaction, and products were analyzed by direct sequencing. Main Outcome Measures: Frameshift DSRAD gene mutations. Results: The c.3513insC (Arg11T1fs) mutation was found in all patients but not in the healthy individuals from family 1, and the c.3220 3224delGCATC (Gly1073fs) mutation was found in 2 patients but not in the healthy members of family 2. These 2 mutations were not found in 96 unrelated control individuals. Conclusion: Our data suggest that these 2 novel frameshift mutations in the DSRAD gene could cause DSH in the Chinese Han population and add new variants to the repertoire of DSRAD mutations in DSH.展开更多
目的了解河北省汉族人群人类白细胞抗原HLA-A等位基因多态性及分布特征。方法采用序列特异性寡核苷酸探针聚合酶链反应(PCR-Sequence Specific Oligonucleotide Probing,PCR-SSOP)方法,对5908名河北汉族捐献造血干细胞健康志愿者的HLA-...目的了解河北省汉族人群人类白细胞抗原HLA-A等位基因多态性及分布特征。方法采用序列特异性寡核苷酸探针聚合酶链反应(PCR-Sequence Specific Oligonucleotide Probing,PCR-SSOP)方法,对5908名河北汉族捐献造血干细胞健康志愿者的HLA-A等位基因作低分辨基因分型检测,采用方根法计算HLA-A基因频率,并进行群体比较。结果河北汉族人群中共检出18个HLA-A基因,呈现较高的基因多态性,包括过去很少被检测到的HLA-A25,A74,其中A座位最常见基因依次为:A*02、A*11、A*24、A*01、A*30、A*03、A*33。结论河北汉族人群HLA-A基因分布有自己的特点,各等位基因频率介于南北汉族之间,但更接近于中国北方汉族人群,符合地域分布特征。展开更多
用 DNA 探针技术分析特异的核苷酸序列来诊断传染病和遗传病,使诊断的灵敏度有了很大的提高,但由于特异的靶序列含量极微,一般情况下即使用 DNA 杂交技术也难以测出,常需将嵌有靶基因的载体导入细菌细胞中,细菌快速繁殖,靶基因得到扩增...用 DNA 探针技术分析特异的核苷酸序列来诊断传染病和遗传病,使诊断的灵敏度有了很大的提高,但由于特异的靶序列含量极微,一般情况下即使用 DNA 杂交技术也难以测出,常需将嵌有靶基因的载体导入细菌细胞中,细菌快速繁殖,靶基因得到扩增后再进行检测。此法费时、费事,难于实际应用。1985年 Saiki 和1987年 Mullis 分别建立了多聚酶链反应(polymerase chaim reaction,PCR),又称特异性 DNA 序列引物定向酶促扩增技术,能选择性扩增、浓集一个特异性 DNA展开更多
文摘Objective: To report and analyze the mutations of the double-stranded RNA-specific adenosine deaminase (DSRAD) gene in 2 Chinese pedigrees with dyschromatosis symmetrica hereditaria (DSH). Design: Pedigree study. Setting: Anhui province of China. Patients: Two Chinese families, consisting of 19 individuals (family 1) and 5 individuals (family 2). Interventions: We directly performed mutation detection of the DSRAD gene in 2 Chinese families with DSH by sequencing. The whole coding region of DSRAD was amplified by polymerase chain reaction, and products were analyzed by direct sequencing. Main Outcome Measures: Frameshift DSRAD gene mutations. Results: The c.3513insC (Arg11T1fs) mutation was found in all patients but not in the healthy individuals from family 1, and the c.3220 3224delGCATC (Gly1073fs) mutation was found in 2 patients but not in the healthy members of family 2. These 2 mutations were not found in 96 unrelated control individuals. Conclusion: Our data suggest that these 2 novel frameshift mutations in the DSRAD gene could cause DSH in the Chinese Han population and add new variants to the repertoire of DSRAD mutations in DSH.
文摘目的了解河北省汉族人群人类白细胞抗原HLA-A等位基因多态性及分布特征。方法采用序列特异性寡核苷酸探针聚合酶链反应(PCR-Sequence Specific Oligonucleotide Probing,PCR-SSOP)方法,对5908名河北汉族捐献造血干细胞健康志愿者的HLA-A等位基因作低分辨基因分型检测,采用方根法计算HLA-A基因频率,并进行群体比较。结果河北汉族人群中共检出18个HLA-A基因,呈现较高的基因多态性,包括过去很少被检测到的HLA-A25,A74,其中A座位最常见基因依次为:A*02、A*11、A*24、A*01、A*30、A*03、A*33。结论河北汉族人群HLA-A基因分布有自己的特点,各等位基因频率介于南北汉族之间,但更接近于中国北方汉族人群,符合地域分布特征。
文摘用 DNA 探针技术分析特异的核苷酸序列来诊断传染病和遗传病,使诊断的灵敏度有了很大的提高,但由于特异的靶序列含量极微,一般情况下即使用 DNA 杂交技术也难以测出,常需将嵌有靶基因的载体导入细菌细胞中,细菌快速繁殖,靶基因得到扩增后再进行检测。此法费时、费事,难于实际应用。1985年 Saiki 和1987年 Mullis 分别建立了多聚酶链反应(polymerase chaim reaction,PCR),又称特异性 DNA 序列引物定向酶促扩增技术,能选择性扩增、浓集一个特异性 DNA
