Detection of the causal mutation for canine leukocyte adhesion deficiency (CLAD) using pyrosequencing

Abstract

A missense mutation in the ITGB2 gene causes canine leukocyte adhesion deficiency (CLAD) in Irish setters. We constructed a diagnostic test to identify heterozygous CLAD carriers based on a newly developed technology termed pyrosequencing. Although primarily designed for high-speed generation of DNA sequence in a gel-free system, the technology can be applied to rapid single-nucleotide polymorphism analysis in a clinical setting. The testing of 339 dogs originating from a total of 10 countries was conducted and CLAD carriers were identified within every country where more than one sample was analysed. This indicates that the CLAD mutation is widespread and that there is a strong need for a robust diagnostic test.

Frequency of the canine leucocyte adhesion deficiency (CLAD) mutation among Irish red setters in Germany

“…The frequency of 11% was significantly less than Kijas et al. (2000) reported, who observed the frequency of CLAD among the Irish setters to be 21%.…”

“…Concerning investigations from Kijas et al. (2000) they concluded that the CLAD allele was widespread, with frequencies ranging from 0.03 to 0.27.…”

Detection of Bovine Leukocyte Adhesion Deficiency (BLAD) in Turkish native and Holstein cattle

“…For this reason BLAD is one of the worst inherited diseases, threatening the dairy industry of the USA and the whole world. BLAD cases have already been reported in many European countries, Australia, South and North America, and India (Gilbert et al, 1993;Zsolnai and Fésüs, 1996;Muraleedharan et al, 1999;Kijias et al, 2000).…”

Feline leukocyte adhesion (CD18) deficiency caused by a deletion in the integrin β2(ITGB2) gene

“…At this time FLAD seems to be a rare immunodeficiency in cats with the ITGB2 mutation being isolated and not widespread. In contrast, the mutant alleles in Holstein cattle and Red and White Setters were relatively common with worldwide occurrence, and screening programs have successfully reduced the occurrence of BLAD and CLAD.…”