Lomax B L, Kalousek D K, Kuchinka B D, Barrett I J, Harrison K J, Safavi H
Department of Pathology, University of British Columbia, Vancouver, Canada.
Hum Genet. 1994 Mar;93(3):243-7. doi: 10.1007/BF00212016.
This study describes a method for defining mosaic aneuploidy by interphase cytogenetics based on statistical limits established from control specimens. Fluorescence in situ hybridization (FISH) has been used to detect the number of copies of specific chromosomes in interphase nuclei from placental tissues of diploid controls and mosaic placentas. FISH was performed using probes D7Z1/D7Z2, D9Z1, D10Z1, and D18Z1, all purchased from Oncor, Inc. Statistical analysis of data obtained from diploid controls was used to determine the one-sided upper reference limit and corresponding 95% confidence interval for the proportion of cells with one and three signals for each of the probes used. The one-sided upper reference limits established the lower levels of monosomy and trisomy detectable using each of the four probes. These statistical parameters were then used to interpret the results obtained by FISH applied to the study of term placentas for the confirmation of prenatally diagnosed chromosomal mosaicism.
本研究描述了一种基于从对照标本建立的统计界限，通过间期细胞遗传学定义嵌合非整倍体的方法。荧光原位杂交（FISH）已用于检测来自二倍体对照和嵌合胎盘的胎盘组织间期核中特定染色体的拷贝数。使用均购自Oncor公司的探针D7Z1/D7Z2、D9Z1、D10Z1和D18Z1进行FISH。对从二倍体对照获得的数据进行统计分析，以确定每个所用探针具有一个和三个信号的细胞比例的单侧上参考限和相应的95%置信区间。单侧上参考限确定了使用四个探针中每个探针可检测到的单体性和三体性的较低水平。然后，这些统计参数被用于解释应用于足月胎盘研究的FISH结果，以确认产前诊断的染色体嵌合现象。
