REVERSE CHROMOSOME PAINTING - A METHOD FOR THE RAPID ANALYSIS OF ABERRANT CHROMOSOMES IN CLINICAL CYTOGENETICS

被引：166

作者：

CARTER, NP ^{[1
]}

FERGUSONSMITH, MA ^{[1
]}

PERRYMAN, MT ^{[1
]}

TELENIUS, H ^{[1
]}

PELMEAR, AH ^{[1
]}

LEVERSHA, MA ^{[1
]}

GLANCY, MT ^{[1
]}

WOOD, SL ^{[1
]}

COOK, K ^{[1
]}

DYSON, HM ^{[1
]}

FERGUSONSMITH, ME ^{[1
]}

WILLATT, LR ^{[1
]}

机构：

[1] ADDENBROOKES HOSP,E ANGLIAN REG GENET SERV,CAMBRIDGE CB2 2QQ,ENGLAND

来源：

JOURNAL OF MEDICAL GENETICS | 1992年 / 29卷 / 05期

关键词：

D O I：

10.1136/jmg.29.5.299

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

We describe a method, termed reverse chromosome painting, which allows the rapid analysis of the content and break-points of aberrant chromosomes. The method involves the sorting of small numbers of the aberrant chromosome from short term blood culture preparations or cell lines by using bivariate flow karyotype analysis. The sorted chromosomes are amplified and biotin labelled enzymatically using a degenerate oligonucleotide-primed polymerase chain reaction (DOP-PCR), the product annealed to metaphase spreads from normal subjects, and hybridisation detected using fluorescence in situ hybridisation (FISH). We show the usefulness of this method for routine clinical cytogenetics by the analysis of cases involving an insertion, a deletion, a translocation, and two cases of a chromosome with additional material of unknown origin. The method has particular application for the rapid resolution of the origin of de novo unbalanced chromosome duplications.

引用

页码：299 / 307

页数：9

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