应用多聚酶链反应(PCR)和荧光原位杂交(FISH)方法对3例X-连锁隐性鱼鳞病(XLRI)患者进行分子诊断。对2个X-连锁隐性鱼鳞病家系3例患者及家族成员采集外周血标本后,先采用PCR扩增STS基因的两末端序列及侧翼的微卫星标记;再应用c DNA STS...应用多聚酶链反应(PCR)和荧光原位杂交(FISH)方法对3例X-连锁隐性鱼鳞病(XLRI)患者进行分子诊断。对2个X-连锁隐性鱼鳞病家系3例患者及家族成员采集外周血标本后,先采用PCR扩增STS基因的两末端序列及侧翼的微卫星标记;再应用c DNA STS基因特异性探针对间期白细胞核进行FISH检测。选取X染色体上自DXS1139至DXF22S1区域内7个微卫星标记进行PCR扩增以确定DNA缺失大小。PCR检测STS基因两端序列结果没有扩增产物。FISH方法也证实了患者STS基因DNA序列存在缺失。应用多态性微卫星序列进行PCR扩增,结果表明患者存在X染色体上STS基因及其侧翼序列,自DXS1139至DXF22S1区域内,DNA缺失达1.97 Mb。PCR和FISH方法证实XLRI患者STS基因及其两侧翼序列DNA缺失,具有重要的遗传咨询意义。展开更多
0 IntroductionThe new design and manufacture model for carbide gear shaper tools have beendiscussed in[1]and[2]respectively.Because the gear shaping in the above model in ofnon-rectilinear type,the modification for th...0 IntroductionThe new design and manufacture model for carbide gear shaper tools have beendiscussed in[1]and[2]respectively.Because the gear shaping in the above model in ofnon-rectilinear type,the modification for the shaping can not be done in the countryfor the time being,it is necessary to consider that the gear cutting edge curve is ofrectilinear type,that is,some involute,which approximate the plane profile curve ofthe tool which is perpendicular to the axial,may be made use of to replace the cut-展开更多
文摘应用多聚酶链反应(PCR)和荧光原位杂交(FISH)方法对3例X-连锁隐性鱼鳞病(XLRI)患者进行分子诊断。对2个X-连锁隐性鱼鳞病家系3例患者及家族成员采集外周血标本后,先采用PCR扩增STS基因的两末端序列及侧翼的微卫星标记;再应用c DNA STS基因特异性探针对间期白细胞核进行FISH检测。选取X染色体上自DXS1139至DXF22S1区域内7个微卫星标记进行PCR扩增以确定DNA缺失大小。PCR检测STS基因两端序列结果没有扩增产物。FISH方法也证实了患者STS基因DNA序列存在缺失。应用多态性微卫星序列进行PCR扩增,结果表明患者存在X染色体上STS基因及其侧翼序列,自DXS1139至DXF22S1区域内,DNA缺失达1.97 Mb。PCR和FISH方法证实XLRI患者STS基因及其两侧翼序列DNA缺失,具有重要的遗传咨询意义。
基金Supported by the Natural Science Foundation of Heilongjiang Province
文摘0 IntroductionThe new design and manufacture model for carbide gear shaper tools have beendiscussed in[1]and[2]respectively.Because the gear shaping in the above model in ofnon-rectilinear type,the modification for the shaping can not be done in the countryfor the time being,it is necessary to consider that the gear cutting edge curve is ofrectilinear type,that is,some involute,which approximate the plane profile curve ofthe tool which is perpendicular to the axial,may be made use of to replace the cut-