A new deletion mutation in bovine Claudin-16 (CL-16) deficiency and diagnosis
A new deletion mutation in bovine Claudin-16 (CL-16) deficiency and diagnosis
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DOI：
10.1046/j.1365-2052.2002.00844.x
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发表时间：
2002-04-01
期刊：
影响因子：
2.4
通讯作者：
Sugimoto, Y
中科院分区：
文献类型：
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作者：
Hirano, T;Hirotsune, S;Sugimoto, Y
牛claudio -16/paracellin-1 （CL-16/PCLN-1）缺乏症是一种常染色体隐性遗传病，由含有CL-16基因前四个外显子的37kb缺失突变引起，导致CL-16转录物缺失（1型突变）。对一群和牛进行了基于pcr的CL-16突变（1型）DNA检测。最近的一份报告表明，受影响的牛可以由诊断为正常的奶牛饲养，这表明在CL-16位点存在新的突变。我们确定了新的突变是一个56 kb的缺失，包含CL-16的外显子1至-4和外显子5的21 bp。我们称之为2型突变。然后建立了针对这种突变的特异性DNA测试。
Bovine claudin-16/paracellin-1 (CL-16/PCLN-1) deficiency is an autosomal recessive disorder caused by a 37-kb deletion mutation containing the first four exons of the CL-16 gene, which leads to the absence of the CL-16 transcript (type-1 mutation). A PCR-based DNA test for the CL-16 mutation (type-1) was used to screen a herd of Wagyu cattle. A recent report suggested that affected cattle can be bred by dams diagnosed as normal, suggesting the presence of a new mutation in the CL-16 locus. We identified the new mutation as a 56-kb deletion containing exon-1 to -4 and 21-bp of exon-5 of CL-16. and refer to this as a type-2 mutation. A DNA test for specific for this mutation was then established.