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Gene Review:

ITGB2 - integrin, beta 2 (complement component 3...

Canis lupus familiaris

Foureman, P. et al., Jobling, A.I. et al., Kijas, J.M. et al.

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High impact information on ITGB2

The causative mutation for CLAD in Irish Setter Dogs from Europe has been identified as a missense mutation at base pair position 107 in the beta-2 integrin subunit gene (ITGB2) that results in an amino acid change from cysteine to serine at amino acid 36 (Cys36Ser) in the beta-2 integrin subunit protein [1].
METHOD: Genomic DNA was isolated from 87 Irish Setter blood samples and a region of the beta-2 integrin gene (ITGB2), encompassing the mutation, was amplified using real-time Polymerase Chain Reaction (PCR) [2].

Biological context of ITGB2

A missense mutation in the ITGB2 gene causes canine leukocyte adhesion deficiency (CLAD) in Irish setters [3].

References

Canine leukocyte adhesion deficiency: presence of the Cys36Ser beta-2 integrin mutation in an affected US Irish Setter cross-breed dog and in US Irish Red and White Setters. Foureman, P., Whiteley, M., Giger, U. J. Vet. Intern. Med. (2002) [Pubmed]
The frequency of the canine leukocyte adhesion deficiency (CLAD) allele within the Irish Setter population of Australia. Jobling, A.I., Ryan, J., Augusteyn, R.C. Aust. Vet. J. (2003) [Pubmed]
Detection of the causal mutation for canine leukocyte adhesion deficiency (CLAD) using pyrosequencing. Kijas, J.M., Juneja, R.K., Gäfvert, S., Andersson, L. Anim. Genet. (2000) [Pubmed]

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