Velo-cardio-facial syndrome diagnostics in moldova by comparative expression qPCR
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611.012:575.224 (1)
Anatomie. Anatomie umană și comparată. (234)
Genetică generală. Citogenetică generală (426)
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DORIF, Alexandr, SAKARA, Viktoria K., PALII, Ina, RODOMAN, Iulia, OPALCO, Igor, GLADUN, Sergiu. Velo-cardio-facial syndrome diagnostics in moldova by comparative expression qPCR. In: International Congress of Geneticists and Breeders from the Republic of Moldova, Ed. 11, 15-16 iunie 2021, Chişinău. Chișinău, Republica Moldova: Centrul Editorial-Poligrafic al Universităţii de Stat din Moldova, 2021, Ediția 11, p. 47. ISBN 978-9975-933-56-8. DOI: https://doi.org/10.53040/cga11.2021.029
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International Congress of Geneticists and Breeders from the Republic of Moldova
Ediția 11, 2021
Congresul "International Congress of Geneticists and Breeders from the Republic of Moldova"
11, Chişinău, Moldova, 15-16 iunie 2021

Velo-cardio-facial syndrome diagnostics in moldova by comparative expression qPCR

DOI: https://doi.org/10.53040/cga11.2021.029
CZU: 611.012:575.224

Pag. 47-47

Dorif Alexandr, Sakara Viktoria K., Palii Ina, Rodoman Iulia, Opalco Igor, Gladun Sergiu
 
Institute of Mother and Child
 
Disponibil în IBN: 15 iunie 2021


Rezumat

Velo-cardio-facial syndrome (VCFS) or 22q11.2 deletion syndrome is caused by a deletion of locus 11.2 at the long arm of chromosome 22. It affects genes involved in formation of 3rd and 4th brachial arches and causes different malformations like cardiac abnormalities, thymus hypo- or aplasia, cleft palate, hypoparathyroidism, intellectual disability etc. In 90% of cases it is caused by de novo deletion, in remaining 10% it is inherited from one of the parents. This health condition could severely affect quality of affected persons life and needs to be diagnosed as early as possible. Deletion causing this disease is higly variable in size, but includes a small conserved region consisting of about 14 genes present in about 100% of deletions. We aimed to develop a simple, fast and cost-efficient method for VCFS diagnostics. Knowing what one of the genes, presented in that region is CTP gene also known as SLC25A1, we developed primers and probe targeting it and used comparative expression technique with albumine as reference gene to assess 22q11.2region copy number. As positive controls were used DNA of patients with VCFS diagnosis confirmed using ddPCR technique in Novosibirsk, Russia, by FISH in Kiev, Ukraine and by aCGH in USA. During research we found three new VCFS cases, one of them being father of affected child diagnosed by ddPCR and FISH, another - a woman with miscarriage history and the third one - a newborn girl with thymic aplasia. All of them shared tetralogy of Fallot as a part of their clinical features. In present work we will describe these cases. We succeseded in development of test system with desired parameters.