【摘要】 为提高检测２１号染色体数目和结构异常的精确性，应用ｄｉｇｏｘｉｇｅｎｉｎ－１１－ｄＵＴＰ通过缺口平移法标记Ｄ１３Ｚ１／Ｄ２１Ｚ１和６个柯斯质粒（Ｃｏｓｍｉｄ）ＤＮＡ克隆，将标记后的Ｄ１３Ｚ１／Ｄ２１Ｚ１和６个柯斯质粒ＤＮＡ克隆双探针与正常二倍体细胞系染色体进行荧光原位杂交（ＦＩＳＨ），结合Ｑ显带方法将６个柯斯质粒ＤＮＡ克隆定位于２１ｑ２２；用柯斯质粒ＤＮＡ克隆探针与两个已知的平衡易位细胞系ＧＭ９５４２和８３２７Ｌ的染色体进行荧光原位杂交，检测并分析杂交信号在两个平衡易位细胞系染色体上的分布，结果表明柯斯质粒ＤＮＡ克隆精确定位于２１ｑ２２．２，６个柯斯质粒ＤＮＡ克隆定位结果一致。更多还原

【Abstract】 D13Z1/D21Z1and6cosmidDNAcloneswerelabeledwithdigoxigenin-11-dUTPbynicktranslation.Fluoresenecinsituhybridization(FISH)wascarriedoutbetweenthelabeledD13Z1/D21Z1andcosmidDNAcloneprobesandchromosomeofthenormaldiploidcelline,andcombinedwithQ-bandingtechnique;the6cosmidDNAcloneswerelocatedon21q22.Furthermore,FISHwasper-formedbetweenthecosmidDNAcloneprobesandchromosomesofthetwocellines(GM9542and8327L)withknownbalancedtranslocation.Detectionofthehybridizationsignalandanalysisofitsdis-tributioninthechromosomesofthetwocellineswithknownbalancedtranslocationshowedthatthecosmidDNAclonewaspreciselylocatedon21q22.2andthe6cosmidDNAcloneshadthesameloca-tion.更多还原