ANALYSIS OF CHROMOSOME-21 COPY NUMBER IN UNCULTURED AMNIOCYTES BY FLUORESCENCE INSITU HYBRIDIZATION USING A COSMID CONTIG

被引：49

作者：

ZHENG, YL

FERGUSONSMITH, MA

WARNER, JP

FERGUSONSMITH, ME

SARGENT, CA

CARTER, NP

机构：

[1] UNIV CAMBRIDGE,DEPT PATHOL,HUMAN MOLEC GENET GRP,TENNIS COURT RD,CAMBRIDGE CB2 1QP,ENGLAND

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

来源：

PRENATAL DIAGNOSIS | 1992年 / 12卷 / 11期

关键词：

FLUORESCENCE INSITU HYBRIDIZATION; 21-COSMID CONTIG; UNCULTURED AMNIOCYTES; TRISOMY-21;

D O I：

10.1002/pd.1970121113

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

A comparison of the use of chromosome 21-specific libraries, DOP-PCR 21 paints, yeast artificial chromosome (YAC) clones, single cosmids, and a 21q cosmid contig as probes for the detection of the copy number of chromosome 21 in interphase cells by fluorescence in situ hybridization shows that the cosmid contig is a satisfactory probe for interphase analysis of chromosome 21. The contig cCMP21.a, which is 55 kb in length, is highly chromosome 21-specific and produces intense, compact signals in a high proportion of interphase cells. A retrospective blind analysis of coded uncultured amniotic fluid samples correctly detected four trisomy 21 cases out of 49 samples.

引用

页码：931 / 943

页数：13

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