Cardiovascular Disease and Genetics

**3**

**Chapter 1**

**Abstract**

genetic diseases

**1. Introduction**

genetic diseases.

**2. Basic genetics**

Canine Genetics and Genomics

In the past fifteen years, tremendous progress has been made in dog genomics. Several genetic aspects of cancer, heart disease, hip dysplasia, vision and hearing problems in dogs have been investigated and studied in detail. Genome-wide associative studies have made it possible to identify several genes associated with diseases, morphological and behavioral traits. The dog genome contains an extraordinary amount of genetic variability that distinguishes the different dog breeds. As a consequence of the selective programs, applied using stringent breed standards, each dog breed represents, today, a population isolated from the others. The availability of modern next generation sequencing (NGS) techniques and the identification of millions of single functional mutations (SNPs) has enabled us to obtain new

*Edo D'Agaro, Andrea Favaro and Davide Rosa*

and unknown detailed genomic data of the different breeds.

**Keywords:** canine genetics, canine genomics, bioinformatics, breeding,

In recent years, genetic studies on dog genomics have multiplied worldwide. Currently, there are over 50 international laboratories which are involved in canine genome projects and several applications will be available in the near future from these studies. These new findings will improve our understanding of the selection process of the dogs and provide useful information for the study and control of

The single-control characters are influenced by genes located in a locus on one of the pairs of the chromosomes (78 in the dog) and have a binomial distribution. For example, the hair length in dogs is coded by two genes present at an autosomal locus. Short-haired animals have genotype LL (dominant homozygotes), while, long-haired animals have genotype ll (recessive homozygotes). From their mating originates short-haired animals with genotype Ll (heterozygotes), indistinguishable from short-haired parents. Even those characters that express different degrees of dominance, different from the Mendelian inheritance, are considered simple characters (e.g. incomplete or partial dominance). The simple characters are not influenced by the environment and, therefore, to each genotype corresponds a certain phenotype (P = G, where P = phenotype and G = genotype). The study of simple characters includes also multiple alleles (several alleles present in a population), pleitropy, association or linkage and incomplete penetrance. For characters
