Familial osteochondrodysplastic and cardiomyopathic syndrome in Chianina cattle.

ABSTRACT:

Background

Skeletal dysplasia encompasses a heterogeneous group of genetic disorders characterized by an abnormal development of bones, joints, and cartilage. Two Chianina half-sibling calves from consanguineous mating with congenital skeletal malformations and cardiac abnormalities were identified.

Hypothesis/objectives

To characterize the disease phenotype, to evaluate its genetic cause, and to determine the prevalence of the deleterious alleles in the Chianina population.

Animals

Two affected calves, their parents and 332 Chianina bulls.

Methods

The affected animals underwent clinicopathological investigation. Whole-genome sequencing trio-approach and PCR-based assessment of the frequency of TDP-glucose 4,6-dehydratase (TGDS) and laminin subunit alpha 4 (LAM

SUBMITTER: Jacinto JGP 

PROVIDER: S-EPMC11586572 | biostudies-literature | 2024 Nov-Dec

REPOSITORIES: biostudies-literature