期刊
ANIMAL GENETICS
卷 43, 期 4, 页码 471-473出版社
WILEY-BLACKWELL
DOI: 10.1111/j.1365-2052.2011.02275.x
关键词
ADAMTS2; dermatosparaxis; mutation; sheep
资金
- Gene-Marker Laboratory, Lincoln University
We have used polymerase chain reaction-single-strand conformational polymorphism analysis to investigate variation in exon 2 of the ADAM metalloproteinase with thrombospondin type I motif, 2 (ADAMTS2) gene in 598 sheep, including three white Dorper lambs that had a pathology consistent with dermatosparaxis. Four sequence variants (A, B, C and D) were identified at this exon, with the lambs having the dermatosparaxis phenotype being uniquely B homozygous and their mothers being B-containing heterozygous for ADAMTS2. Analysis of the amplified exon 2 sequences revealed the B variant had a nucleotide substitution that creates a premature stop codon and would notionally abbreviate the ADAMTS2 peptide. The B variant was not found in any other breed aside from the white Dorper sheep that were studied.
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