DefinePK

Abstract

Most of autosomal disorders are breed specific except a few like Ehlers-Danlos syndrome, type VII (Dermatosparaxis) which is reported in Holstein, Belgium Blue, Charolais, Hereford, Simmentaler cattle etc. Ehlers-Danlos Syndrome is a heritable collagen dysplasia causing skin extensibility and fragility in animals and humans. The disease caused by different mutations like single base pair change, and 3 base pair change followed by a 17bp deletion in the beginning of the sequence of the gene coding for the enzyme procollagen 1N-Proteinase (pNPI) in different breeds of cattle. Clinical signs and severity of condition vary between species. The disorder characterized by tearing of skin, hyperextensiblity and fragility of skin. For the present study, 142 blood samples from Holsteins, Holstein crossbreds, Red Knadhari, Khillar and Gaolao breeds were collected in EDTA vacutianer tubes. The DNA was extracted using PCR to detect 17bp deletion. Out of 142 samples, 131 samples were amplified by PCR. The study revealed that none of cattle considered for the investigation, exhibited 17bp deletion in the functional gene. However, it needs to investigate all kind of mutations in a candidate gene in a large population to assert the presence or absence of Ehlers-Danlos syndrome, type VII (Dermatosparaxis). Since the sample size was limited, it is advisable to cover more population and study the occurrence of other mutations causing the symptoms of diseases in different breeds of cattle in India.