Open AccessPrevalence and Clinical Relevance of Exon 2 Deletion of COMMD 1 in Bedlington Terriers in Korea
Author(s) -
Kim Y.G.,
Kim S.Y.,
Kim J.H.,
Lee K.K.,
Yun Y.M.
Publication year - 2016
Publication title -
journal of veterinary internal medicine
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.356
H-Index - 103
eISSN - 1939-1676
pISSN - 0891-6640
DOI - 10.1111/jvim.14590
Subject(s) - medicine , relevance (law) , exon , genetics , gene , biology , political science , law
Background Deletion of exon 2 of copper metabolism domain containing 1 ( COMMD 1 ) results in copper toxicosis in Bedlington terriers ( CT ‐ BT ). Objectives This study was conducted to identify the prevalence and clinical relevance of the COMMD 1 mutation in Bedlington terriers in Korea. Animals A total of 105 purebred Bedlington terriers (50 males, 55 females) from the kennels and pet dog clubs in Korea were examined during the period 2008–2013. Methods A multiplex PCR was carried out to detect exon 2 deletion of COMMD 1 . Clinical analysis was performed on each genetic group, and clinical status of the dogs was followed up to estimate survival probability. Results Of the 105 samples, 52 (49%) were wild‐type homozygote, 47 (45%) were heterozygote, and 6 (6%) were mutant‐type homozygote. Plasma alanine aminotransferase ( ALT ) activity was increased in the mutant‐type homozygous group >2 years of age ( P < .0001). The survival probability of 6 mutant‐type homozygotes surviving 2.5 years was 0.67, and 4 years was 0.5. Conclusions and Clinical Importance Results show the prevalence and clinical relevance of exon 2 deletion of COMMD 1 and could help establish a structured selective breeding program to prevent CT ‐ BT in Korea.