J Biomed Transl Res.  2016 Dec;17(4):85-90. 10.12729/jbtr.2016.17.4.085.

Carrier testing for autosomal recessive hereditary disorder in Korean proven bulls

• Lim KS
• Park BH
• Choi TJ
• Lim D
• Cho YM

• KMID: 2368688
• DOI: http://doi.org/10.12729/jbtr.2016.17.4.085

Abstract

Carrier testing for autosomal recessive hereditary disorders in the elite sire population has great significance for the domestic animal breeding. Because the recessive allele embedded in carriers without clinical signs may be passed to the next generation and rapidly spread throughout the population. The occurrences of various autosomal recessive hereditary disorders have been reported, and several causative mutations were elucidated in cattle. However, there is no report for the hereditary disorders in Korean cattle (Hanwoo) although Hanwoo is the indigenous purebred in Korea and have been improved by the national breeding programs in the last 30 years. Here, we investigated the presence of carrier for the following hereditary disorders in the Korean proven bulls (n=78; 42 family) using DNA based analysis: Chediak-Higashi syndrome, spherocytosis, claudin-16 deficiency, factor XI deficiency. The causative genes for these diseases (lysosomal trafficking regulator, solute carrier family 4 member 1, Claudin-16 and coagulation factor XI, respectively) were analyzed by polymerase chain reaction and direct sequencing. As a results, there was no carrier individual, and all animals were normal. Although the recessive alleles for four disorders were not identified in this study, further investigation for other hereditary disorders still remains to remove deleterious factors in the genetic improvement of Korean cattle.

Keyword

Hanwoo; Chediak–Higashi syndrome; spherocytosis; claudin⁃16 deficiency; factor XI deficiency

MeSH Terms

Alleles
Animals
Animals, Domestic
Anion Exchange Protein 1, Erythrocyte
Breeding
Cattle
DNA
Factor XI
Factor XI Deficiency
Korea
Polymerase Chain Reaction
Anion Exchange Protein 1, Erythrocyte
DNA
Factor XI