RAPID DETECTION OF SELECTED ANEUPLOIDIES BY QUANTITATIVE FLUORESCENT PCR

被引:35
作者
ADINOLFI, M [1 ]
SHERLOCK, J [1 ]
PERTL, B [1 ]
机构
[1] DEPT OBSTET & GYNAECOL, GRAZ, AUSTRIA
关键词
D O I
10.1002/bies.950170712
中图分类号
Q5 [生物化学]; Q7 [分子生物学];
学科分类号
071010 ; 081704 ;
摘要
Selected aneuploidies can be rapidly diagnosed by the analysis of fluorescent polymerase chain reaction (PCR) products of chromosome-specific and highly polymorphic small tandem repeats (STRs). The quantitative STR patterns obtained from samples of normal individuals are markedly different from those seen when patients with aneuploidies involving chromosome X, or trisomies of chromosomes 21 and 18, are tested. For example, while samples from normal subjects - tested with a chromosome 21-derived STR (D21S11) - show two fluorescent PCR peaks with similar activities in a 1:1 ratio, the analysis of samples from patients with trisomy 21 reveals the presence of either three peaks (ratio 1:1:1), or two peaks with a ratio of 2:1. The use of an internal non-polymorphic marker allows identification of trisomic samples with three copies of the same allele. This rapid approach (24 hours) is particularly valuable when applied to prenatal diagnosis of chromosomal abnormalities since it reduces the time of anxiety of the parents waiting for the results of the conventional cytogenetic tests, which require several weeks.
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页码:661 / 664
页数:4
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