Evaluation of a test for identification of Arabian horses heterozygous for the severe combined immunodeficiency trait.

Objective: To determine whether a recently developed test would correctly identify horses heterozygous for the severe combined immunodeficiency (SCID) trait.

Design: Case series.

Animals: 17 healthy Arabian horses that had previously produced foals with SCID, 1 healthy Arabian foal whose dam and sire had produced foals with SCID, 4 foals with SCID, and 1 healthy non-Arabian foal.

Procedure: DNA was extracted from leukocytes or fibroblasts, amplified by means of polymerase chain reaction, and hybridized with probes specific for the normal and mutant alleles of the catalytic subunit of DNA-dependent protein kinase, the factor whose absence is responsible for SCID in Arabian foals.

Results: Amplified DNA from the healthy non-Arabian foal hybridized only to the probe specific for the normal allele, whereas amplified DNA from the 4 foals with SCID hybridized only to the probe specific for the mutant allele. Amplified DNA from the 2 stallions and 15 mares hybridized with both probes, as did amplified DNA from the healthy foal whose dam and sire had previously produced foals with SCID, indicating that these horses were all heterozygous for the SCID trait.

Clinical Implications: Results suggest that the genetic test will be useful in identifying Arabian horses heterozygous for the SCID trait and foals with SCID, provided that all Arabian horses with SCID have the same genetic mutation.