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2004 | 51 | 4 | 995-1001
Article title

Adaptation of PCR technique for quantitative estimation of genetic material from different regions of chromosome 21 in cases of trisomy 21.

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EN
Abstracts
EN
Pre- and postnatal diagnosis of chromosomal aberrations is generally based on conventional cytogenetic analysis. In this paper, we have devised a quantitative polymerase chain reaction (Q-PCR) method to determine gene dose effects and applied it in cases of regular trisomy 21 as a model. The method is based on quantitative assessment of PCR products after using primers amplifying DNA fragments located in the pericentromeric, heterochromatic, euchromatic and telomeric regions of chromosome 21. A gene dose effect on the amount of PCR product in cases of trisomy 21 was confirmed. Moreover, a correlation between the amount of the PCR product of the examined sequences and their location in the chromosome was observed. The obtained results suggest that the Q-PCR technique can be applied in the diagnosis of aneuploidies.
Year
Volume
51
Issue
4
Pages
995-1001
Physical description
Dates
published
2004
received
2004-01-15
revised
2004-10-08
accepted
2004-10-19
References
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Document Type
Publication order reference
YADDA identifier
bwmeta1.element.bwnjournal-article-abpv51i4p995kz
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