Cor Vasa 2007, 49(6):229-236 | DOI: 10.33678/cor.2007.082

Genetics in cardiology. Part II. Basic notions in genetics, methods of examination, types of heredity, chromosomal aberrations, genetics of congenital heart disease

Ilga Grochová1, Ladislav Groch2,*, Diana Grochová3
1 Genprogress s. r. o. Brno, Centrum prenatální diagnostiky s. r. o
2 I. interní-kardioangiologická klinika, Fakultní nemocnice u sv. Anny
3 Laboratoř molekulární patologie, Patologicko-anatomický ústav, Fakultní nemocnice Brno, Brno, Česká republika

In Part II of their series Genetics in cardiology, the authors provide definitions of basic notions in genetics the gene, allele, locus, homozygote, and heterozygote. The genome including the mitochondrial one, the genotype, and phenotype are discussed. The section covering alterations in the genetic material explains the terms aberration and mutation. Monogenic and polygenic diseases are described. The section addressing methods of examination in genetics briefly defines cytogenetic and molecular genetic methods of diagnosis. This is followed by a section covering genetics of congenital heart disease, with examples of chromosomal aberrations resulting in the most frequent types of congenital heart disease.

Keywords: Gene; Allele; Locus; Types of heredity; Aberration; Mutation

Published: June 1, 2007  Show citation

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Grochová I, Groch L, Grochová D. Genetics in cardiology. Part II. Basic notions in genetics, methods of examination, types of heredity, chromosomal aberrations, genetics of congenital heart disease. Cor Vasa. 2007;49(6):229-236. doi: 10.33678/cor.2007.082.
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