目的采用序列特异性引物PC R技术(PC R-SSP)进行R H D基因定型。方法采用新近报道的PC R-SSP R H D定型方法检测10例R hD阳性个体,包括2例哈萨克族人、2例蒙古族人、2例藏族人和4例维吾尔族人,以及11例R hD阴性个体(汉族10例、维吾尔族...目的采用序列特异性引物PC R技术(PC R-SSP)进行R H D基因定型。方法采用新近报道的PC R-SSP R H D定型方法检测10例R hD阳性个体,包括2例哈萨克族人、2例蒙古族人、2例藏族人和4例维吾尔族人,以及11例R hD阴性个体(汉族10例、维吾尔族人1例),并通过测序和内含子检测分析1例汉族个体的R H D基因型。结果全部样品的PC R-SSP检测结果与血清学表型相符,1例汉族R hD阴性个体鉴定为D放散型,携带R H D1227A等位基因,1例个体的检测结果提示携带融合R H D基因。测序分析显示该融合基因的第1、2和第10外显子序列与正常R H D基因相应外显子相同,而缺失其余外显子,由于R H D基因和R H C E(e)基因的第2外显子序列相同,笔者采用PC R方法检测R H D基因第2内含子,结果为阴性,说明该个体携带的融合基因为R H D-C E(2-9)-D2等位基因。结论PC R-SSP可用于中国人R h血型D抗原基因定型。展开更多
BACKGROUND: There are few data on blood group(BG) types and types of pancreatic cancers. The aims of this study were to study BG types and BG-antigens in pancreatic intraductal papillary mucinous neoplasms(IPMNs). MET...BACKGROUND: There are few data on blood group(BG) types and types of pancreatic cancers. The aims of this study were to study BG types and BG-antigens in pancreatic intraductal papillary mucinous neoplasms(IPMNs). METHODS: BG type and tumor BG-antigen(glycoprotein) expression(studied by immunohistochemistry on tissue microarrays) were analyzed with regard to characteristics of 101 surgically resected pancreatic IPMNs. RESULTS: Non-O BG type predicted invasive carcinoma independently from high serum CA19-9 and male gender. BG type A was observed more frequently in women than in men. Chronic pancreatitis was more frequently seen in patients with BG type B or AB. Aberrant tumor expression(with regard to BG type) of loss of A antigen expression type occurred in 15.0% of IPMNs and of loss of B antigen expression type in 62.5% of IPMNs. Intraneoplasm BG-antigen expression was not related to dysplasia grade or invasion. CONCLUSION: The results of the study suggest that in pancreatic IPMN, non-O BG type predicted invasive carcinoma, whereas for intratumor BG-antigen expression no specific patterns were detected with regard to the progression of glandular epithelial dysplasia or invasion.展开更多
目的:对部分D表型孕妇进行免疫血清学和RHD基因型分析。方法:采用常规血型血清学方法鉴定孕妇RhD血型,并进行血型特异性抗体筛查和鉴定;采用序列特异性引物聚合酶链反应(polymerase chain reactionsequence specific primer,PCR-SSP)鉴...目的:对部分D表型孕妇进行免疫血清学和RHD基因型分析。方法:采用常规血型血清学方法鉴定孕妇RhD血型,并进行血型特异性抗体筛查和鉴定;采用序列特异性引物聚合酶链反应(polymerase chain reactionsequence specific primer,PCR-SSP)鉴定孕妇RHD基因型;采用多重连接依赖的探针扩增技术(multiplex ligationdependent probe amplification,MLPA)对孕妇及其配偶和女儿的RhD血型抗原进行基因分型及遗传分析。结果:该孕妇血清中检测出IgG抗-D,其抗体效价为1∶8。PCR-SSP结果显示,该孕妇RHD基因第3-6外显子缺失,经鉴定该孕妇RHD基因型为DVI type 3型。MLPA分析显示,该孕妇只有1条RHD等位基因,且缺失3-6外显子,其基因型为CDVIe/cde,其配偶为CDe/CDe纯合子基因型,女儿为CDe/CDVIe基因型。结论:准确的RhD血型鉴定对制定安全有效的临床输血策略和对育龄妇女采取恰当措施及预防新生儿溶血病具有重要意义。展开更多
文摘目的采用序列特异性引物PC R技术(PC R-SSP)进行R H D基因定型。方法采用新近报道的PC R-SSP R H D定型方法检测10例R hD阳性个体,包括2例哈萨克族人、2例蒙古族人、2例藏族人和4例维吾尔族人,以及11例R hD阴性个体(汉族10例、维吾尔族人1例),并通过测序和内含子检测分析1例汉族个体的R H D基因型。结果全部样品的PC R-SSP检测结果与血清学表型相符,1例汉族R hD阴性个体鉴定为D放散型,携带R H D1227A等位基因,1例个体的检测结果提示携带融合R H D基因。测序分析显示该融合基因的第1、2和第10外显子序列与正常R H D基因相应外显子相同,而缺失其余外显子,由于R H D基因和R H C E(e)基因的第2外显子序列相同,笔者采用PC R方法检测R H D基因第2内含子,结果为阴性,说明该个体携带的融合基因为R H D-C E(2-9)-D2等位基因。结论PC R-SSP可用于中国人R h血型D抗原基因定型。
文摘BACKGROUND: There are few data on blood group(BG) types and types of pancreatic cancers. The aims of this study were to study BG types and BG-antigens in pancreatic intraductal papillary mucinous neoplasms(IPMNs). METHODS: BG type and tumor BG-antigen(glycoprotein) expression(studied by immunohistochemistry on tissue microarrays) were analyzed with regard to characteristics of 101 surgically resected pancreatic IPMNs. RESULTS: Non-O BG type predicted invasive carcinoma independently from high serum CA19-9 and male gender. BG type A was observed more frequently in women than in men. Chronic pancreatitis was more frequently seen in patients with BG type B or AB. Aberrant tumor expression(with regard to BG type) of loss of A antigen expression type occurred in 15.0% of IPMNs and of loss of B antigen expression type in 62.5% of IPMNs. Intraneoplasm BG-antigen expression was not related to dysplasia grade or invasion. CONCLUSION: The results of the study suggest that in pancreatic IPMN, non-O BG type predicted invasive carcinoma, whereas for intratumor BG-antigen expression no specific patterns were detected with regard to the progression of glandular epithelial dysplasia or invasion.
文摘目的:对部分D表型孕妇进行免疫血清学和RHD基因型分析。方法:采用常规血型血清学方法鉴定孕妇RhD血型,并进行血型特异性抗体筛查和鉴定;采用序列特异性引物聚合酶链反应(polymerase chain reactionsequence specific primer,PCR-SSP)鉴定孕妇RHD基因型;采用多重连接依赖的探针扩增技术(multiplex ligationdependent probe amplification,MLPA)对孕妇及其配偶和女儿的RhD血型抗原进行基因分型及遗传分析。结果:该孕妇血清中检测出IgG抗-D,其抗体效价为1∶8。PCR-SSP结果显示,该孕妇RHD基因第3-6外显子缺失,经鉴定该孕妇RHD基因型为DVI type 3型。MLPA分析显示,该孕妇只有1条RHD等位基因,且缺失3-6外显子,其基因型为CDVIe/cde,其配偶为CDe/CDe纯合子基因型,女儿为CDe/CDVIe基因型。结论:准确的RhD血型鉴定对制定安全有效的临床输血策略和对育龄妇女采取恰当措施及预防新生儿溶血病具有重要意义。