Aspects of genetics and disease in the horse.

Dead or deformed foals produced by purebred parents represent an economic and emotional loss to the horse breeder. To avoid repeating production of such defective foals, the breeder may seek assistance in identifying the possible environmental or genetic causes for such animals. Only a few genetic diseases of the horse have been rigorously defined. Selected rare genetic diseases that prevent reproduction, cause the natural death or necessitate the humane destruction of a foal before it fulfills its intended purpose serve as examples for the definition of genetics of other deleterious diseases in the horse.

Linkage of loci controlling alloantigens on red blood cells and lymphocytes in the horse.

A system of equine lymphocyte alloantigens designated ELA, is identified, and it is shown that the locus or loci controlling these markers must be closely linked to the locus controlling markers in the A system of horse blood groups. Among 29 offspring in two stallion families there was evidence for one recombinant. Lod scores for linkage between the A and ELA loci in the two families were 3.61 and 3.33, respectively, for theta equal to 0.

Cytogenetic and clinical findings in mares with gonadal dysgenesis.

Gonadal dysgenesis in the mare is associated with several different karyotypes, including sex chromosome aneuploidy (63,X; 63,X/64,XX; 63,X/64,XY or 65,XXX), the normal male complement (64,XY) and autosomal deletion (64,XX?del2q-). The 63,X is the most common karyotype found in gonadal dysgenesis. Aneuploid cases probably represent spontaneous chromosome non-disjunction during oogenesis, spermatogenesis or early embryonic development. Cases with XY or autosomal deletion may be inherited defects or of spontaneous origin.

Linkage of tobiano coat spotting and albumin markers in a pony family.

Genetic segregation patterns among blood type markers and various phenotypically observed traits were studied in a small herd of ponies. The herd consisted of 10 mares without white spotting and a single stallion with the dominant pattern of tobiano spotting. Comparison of segregation patterns at loci for which the stallion was heterozygous showed tight linkage for the Alb-B and tobiano markers. In 17 cases in which the Alb contribution of the sire could be determined, all 10 foals that inherited AlbB from him were tobiano spotted, and all 7 non-spotted foals inherited his AlbA. The use of the symbol To is proposed for dominantly inherited tobiano spotting linked to the albumin.

Measurement of neonatal equine immunoglobulins for assessment of colostral immunoglobulin transfer: comparison of single radial immunodiffusion with the zinc sulfate turbidity test, serum electrophoresis, refractometry for total serum protein, and the sodium sulfite precipitation test.

Four procedures for assessment of adequacy of colostral immunoglobulin (Ig) transfer in foals were evaluated. Results of zinc sulfate turbidity test, serum electrophoresis, total serum protein refractometry, and sodium sulfite precipitation test were compared with immunoglobulin G content determined by single radial immunodiffusion. The zinc sulfate turbidity test gave acceptable results for IgG, except that hemolyzed serum samples gave higher than expected values. A correction factor for hemolyzed serum was found to be useful. Serum electrophoresis was a satisfactory method of estimating IgG content. Total serum protein values may not be a valid basis for estimating IgG content, inasmuch as postsuckling total protein values were found to decrease in some foals in which passive transfer of IgG had been adequate. Sodium sulfite precipitation reactions were too unpredictable to be of value for determination of neonatal IgG concentration.

A new allele in the prealbumin system of horse serum markers.

A family study of an index case in the Arabian breed of horses demonstrated the presence of a new allele in the prealbumin (Pr) system of electrophoretically determined markers in horse serum which, when homozygous, results in the absence of any recognizable zones in the Pr region. The symbol PrO is proposed for this allele which has an estimated frequency in Arabian horses of 0.09.

Infertility in the horse associated with chromosomal abnormalities.

Reproductive failure was studied in 12 phenotypically normal mares (9 Arabian, 3 Quarter horses, 1 Appaloosa and 1 pony). Karyotyping was performed using lymphocytes isolated from peripheral blood by density gradient procedures, followed by standard culture methods for karyotyping. Nine mares had karyotypes of 63,XO; 1 had 63,XO/64,XX; 1 had 63,XO/64,XY and 1 had 64,XY. All mares had small, firm ovaries that when removed and examined from 4 mares, lacked germ cells and consisted of undifferentiated ovarian stroma.

Immunotherapy in two foals with combined immunodeficiency, resulting in graft versus host reaction.

Immunotherapy was attempted in 2 Arabian foals with combined immunodeficiency. One foal was given a transplant of bone marrow from a selected full sibling, and 1 foal was given a fetal thymus transplant. Both foals died. Genetic evidence was obtained for survival of the transplanted tissues in both cases; however, a graft versus host reaction developed in the foal given the fetal thymus transplant.

Use of blood typing to confirm principles of coat-color genetics in horses.

The chestnut rule in equine coat-color genetics asserts that the inter se mating of chestnut horses never produces bay, black, brown or gray offspring. The gray rule asserts that a gray offspring must have at least one gray parent. Nine alleged exceptions to the chestnut rule, all involving bay offspring, and eight alleged exceptions to the gray rule, including four offspring that were also exceptions to the chestnut rule, were examined for parent-offspring genetic incompatibilities in as many as 17 genetic systems of blood-group markers. In all except one of the 17 cases it was possible to show that parentage had been incorrectly assigned. In 9 of the 16 exclusions it was possible to exclude the stallion irrespective of the mare and in one of the 16 exclusions it was possible to exclude the mare irrespective of the stallion. The percentage of exclusions, i.e., 94, was closely in line with expectation based on the established efficacy of these tests, about 90 percent, in excluding the incorrect stallion or stallions in paternity cases. Although the results strongly uphold the validity of the chestnut and gray rules in equine coat-color inheritance, they do not completely exclude the possibility that there could be rare exceptions to one or the other or both color rules. Insofar as equine registries may be concerned, the results clearly indicate that no alleged exception to the color rules should be considered eligible for registry in the absence of these tests.

Canine osteosarcoma karyotypes from an original tumor, its metastasis, and tumor cells in tissue culture.

Radiation-induced osteosarcoma, its metastasis, and cells grown in tissue culture were karyotyped. Both hypodiploid and hyperdiploid stem lines were observed. The hypodiploid line contained 45-55 chromosomes with 10-15 abnormal metacentric and submetacentric chromosomes and one subtelocentric marker. The hyperdiploid line contained 90-105 chromosomes with 20-30 abnormal metacentric and submetacentric chromosomes with two subtelocentric markers. Karyotypic analysis can be used to monitor osteosarcomas maintained in tissue culture.

Gonadal dysgenesis in the mare.

Five phenotypically normal but infertile mares were studied; four had karyotypes of 63XO, and one was a 25,64XX/13,63XO mosaic. The mares exhibited small uteri and has small ovaries that lacked germ cells and consisted primarily of undifferentiated ovarian stroma. These cases demonstrate that chromosome analysis is an important technique for the diagnosis of some forms of equine infertility.