Localization of the locus responsible for Chediak-Higashi syndrome in cattle to bovine chromosome 28
Localization of the locus responsible for Chediak-Higashi syndrome in cattle to bovine chromosome 28
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DOI：
10.1046/j.1365-2052.2000.00607.x
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发表时间：
2000-04-01
期刊：
影响因子：
2.4
通讯作者：
Ogawa, H
中科院分区：
文献类型：
--
作者：
Kunieda, T;Ide, H;Ogawa, H
日本黑牛Chediak-Higashi综合征是一种出血时间延长和部分白化的遗传性疾病。在本研究中，我们映射的基因座负责疾病（CHS）的连锁分析，利用微卫星基因型的父系半同胞家系从商业牛群。分析表明，显着的连锁CHS位点和标记位点的近端牛28号染色体。CHS基因座被定位在包含微卫星标记BMC 6020、BM 2892和RM 016的区域上，重组分数为0，lod得分为4.9-11.2。我们还分配牛CHS 1/LYST，同源的基因负责人Chediak-Higashi综合征，牛染色体28使用牛/鼠体细胞杂交面板。这些发现表明，CHS 1/LYST基因的突变可能是日本黑牛Chediak-Higashi综合征的原因。
Chediak-Higashi syndrome in Japanese black cattle is a hereditary disease with prolonged bleeding time and partial albinism. In the present study, we mapped the locus responsible for the disease (CHS) by linkage analysis using microsatellite genotypes of paternal half-sib pedigrees obtained from commercial herds. Analysis revealed significant linkage between the CHS locus and marker loci on the proximal end of bovine chromosome 28. The CHS locus was mapped on the region incorporating the microsatellite markers BMC6020, BM2892, and RM016 with recombination fraction 0 and lod score 4.9-11.2. We also assigned the bovine CHS1/LYST, the homologue of the gene responsible for human Chediak-Higashi syndrome, to bovine chromosome 28 using a bovine/murine somatic cell hybrid panel. These findings suggest that a mutation in the CHS1/LYST gene is likely to be responsible for Chediak-Higashi syndrome in Japanese black cattle.