论文部分内容阅读
目的:检测复杂染色体重排断裂点区域是否隐藏有亚显微拷贝数变化,确定重排的复杂性,探讨微阵列比较基因组杂交在分子细胞遗传诊断中运用的可行性和优越性.方法:应用微阵列比较基因组杂交芯片对一被传统G显带和多色荧光原位杂交诊断为平衡复杂染色体重排(46,XX.t(4;5;15)(4pter→4q23::15q23→15qter;4qter→4q23::5p15→5qter;15pter→15q23::)dn)的胎儿进行全基因组高分辨率扫描和分析.结果:微阵列比较基因组杂交显示胎儿存在3个亚显微拷贝数变化:dup(5)(q13.2)(69274233-70622915,～1.35Mb),del(15)(q11.2)(18657188-20080135,～1.42Mb)和del(18)(p11.31-p11.23)(7069849-7567290,～0.49Mb),均定位于重排断裂点(4q23,5p15和15p23)以外的区域,与断裂点不相关.结论:被传统细胞遗传分析技术诊断为平衡染色体重排的病例会隐藏有亚显微拷贝数变化,且这些拷贝数变化并非一定定位于重排断裂点区域;对于检测和定位亚显微拷贝数变化,微阵列比较基因组杂交是一个非常强大和有效的工具.
OBJECTIVE: To detect the submicroscopic copy number changes hidden in the region of the rupture point of complex chromosomal rearrangements and to determine the complexity of rearrangement, to explore the feasibility and superiority of microarray comparative genomic hybridization in molecular cytogenetic diagnosis.Methods: Microarray comparative genomic hybridization was a balanced complex chromosomal rearrangement by a conventional G banding and multi-color fluorescence in situ hybridization (4pter → 4q23 :: 15q23 → 15qter; 4qter → 4q23 :: 5p15 → 5qter; 15pter → 15q23: :) dn) were analyzed by genome-wide high resolution.Results: Microarray comparative genomic hybridization showed that there were 3 submicroscopic copy number changes in the fetus: dup ( Del (18) (p11.31-p11.23) (q11.2) (18657188-20080135, ~1.42 Mb) and del (18) (p11.31- p11.23) (q13.2) (69274233-70622915, ~1.35 Mb) 7069849-7567290, ~ 0.49Mb), all located outside the rearrangement breakpoint (4q23, 5p15 and 15p23), but not related to the breakpoint.Conclusions: Cases diagnosed by traditional cytogenetic analysis as balanced chromosome rearrangements The submicroscopic copy number changes are hidden, and these copy number changes do not necessarily reside in the area of rearranged breakpoints; for the detection and Bit submicroscopic copy number changes, microarray comparative genomic hybridization is a powerful and effective tool.