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ctt-journal > Kotelevskaya et al. (Abstract)

Kotelevskaya et al. (Abstract)

Cellular Therapy and Transplantation (CTT), Vol. 3, No. 9
doi: 10.3205/ctt-2010-No9-abstract30
© The Authors. This abstract is provided under the following license: Creative Commons Attribution 3.0 Unported

Abstract accepted for "4th Raisa Gorbacheva Memorial Meeting on Hematopoietic Stem Cell Transplantation",
Saint Petersburg, Russia, September 18–20, 2010

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Postnatal diagnostics for genetic diseases

Elena A. Kotelevskaya, Svetlana A. Smirnova, Ivan A. Pirogkov, Alexander B. Smolyaninov

“Stem cell bank Pokrovsky” ltd., Saint-Petersburg, Russia

Correspondence: Elena A. Kotelevskaya, “Stem cell bank Pokrovsky” ltd., 85, Bolshoi prospect V.O., 199106, Saint-Petersburg, Russia, E-mail: stemcellbank@spam is badinbox.ru


Genetic diseases are pathologies occurring as a result of chromosomal abnormalities or point mutations in genes e.g., a shift in the nucleobase sequence of DNA that lead to changes in gene function. Inherited diseases are also caused by alterations in chromosomal structure or quantity. In some cases chromosomal abnormalities can be the reason for a malignant growth.

The use of molecular-genetic methods of diagnostics for inherited or congenital diseases both in prenatal and postnatal periods is one of the most important directions of predictive medicine.

At the “Stem cell bank Pokrovsky”, the multiplex ligation-dependent probe amplification method is used in diagnosing inherited diseases. This technology assesses the amount of copies of exon in the coding region of a gene. Detected gene mutations are confirmed by polymerase chain reaction or direct sequencing of the gene region. It is also possible to detect chromosomal aneuploidy and microdeletion syndromes.

For detection of polymorphisms DNA is isolated from 0.7 ml of whole frozen blood using a Protrans set for DNA isolation, the DNA Box 500 (Protrans, Germany). The screening of deletions and insertions in exons and point mutations in the gene sequence is conducted with the use of a set by MRC-Holland (Holland). The quantity assessment of the products of the multiplex ligation-dependent probe amplification reaction is conducted with the CEQ 8800 Genetic Analysis System (Beckman Coulter, USA).

In the first place diagnostics for genetic disease are used to assess the risk of these diseases, especially if the parents bear bad heredity. Early diagnostics can help in prevention and enable a timely treatment start, which in the end helps to improve the quality of a patients’ life.

Keywords: genetic diseases, multiplex ligation-dependent probe amplification, chromosomal abnormalities

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