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

• Autorzy: Nowacka J. , Helszer Z. , Walter Z. , Plucienniczak A. , Kaluzewski B.
• Języki publikacji: EN

Abstrakty

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.

Słowa kluczowe

EN

prenatal diagnosis; chromosome 21; chromosome aberration; polymerase chain reaction; postnatal diagnosis; genetic material

• Wydawca: -
• Czasopismo: Acta Biochimica Polonica
• Rocznik: 2004
• Tom: 51
• Numer: 4
• Opis fizyczny: p.995-1001,fig.,ref.

Twórcy

autor

Nowacka J.

• Medical University of Lodz, Sterlinga 3, 91-425 Lodz, Poland

autor

Helszer Z.

autor

Walter Z.

autor

Plucienniczak A.

autor

Kaluzewski B.

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