Leukocyte adhesion deficiency, type I
Phenotype Details
- Phene ID
- 1162
- Name
- Leukocyte adhesion deficiency, type I
- Phene Name
- Bovine leukocyte adhesion deficiency; BLAD; Haplotype HHB
- OMIA ID
- 595
- Species ID
- 9913
- Characterised
- Yes
- Characterised Year
- 1992
Linked Genes
| Symbol | Gene ID | Chromosome | Description |
|---|---|---|---|
| ITGB2 | 281877 | 1 | integrin subunit beta 2 |
Linked Variants
| Variant ID | Phenotype | Gene ID | Deleterious | Chromosome | Genomic | Transcript | Protein |
|---|---|---|---|---|---|---|---|
| 197 | Leukocyte adhesion deficiency, type I | 281877 | 1 | 1 | NC_037328.1:g.144770078T>C | NM_175781.1:c.383A>G | NP_786975.1:p.(D128G) |
Linked Breeds
| Breed | Breed ID | Species ID | VBO Term |
|---|---|---|---|
| Blanco Orejinegro, Colombia (Cattle) | 1340 | 9913 | http://purl.obolibrary.org/obo/VBO_0004602 |
| Holstein Friesian (Cattle) | 73 | 9913 | http://purl.obolibrary.org/obo/VBO_0000239 |
| Jersey (Cattle) | 46 | 9913 | http://purl.obolibrary.org/obo/VBO_0000250 |
Molecular Genetics
By cloning and sequencing a very likely comparative candidate gene (based on the same disorder in humans), Shuster et al. (1992; PNAS) showed that this disorder in Holstein cattle is due to a missense mutation (c.383A>G) in the CD18 gene, now known as ITGB2. This mutation was confirmed in Daetwyler et al. (2014)'s analysis of whole-genome sequence data from 234 cattle, including key ancestors of the Holstein-Friesian, Fleckvieh and Jersey breeds: the c.383A>G mutation was identified in only four Holstein bulls in this study, each of which had previously been identified as a carrier.