Linkage mapping of the locus responsible for congenital multiple ocular defects in cattle on bovine Chromosome 18
Linkage mapping of the locus responsible for congenital multiple ocular defects in cattle on bovine Chromosome 18
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DOI：
10.1007/s00335-005-0043-x
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发表时间：
2005-09-01
期刊：
影响因子：
2.5
通讯作者：
Kunieda, T
中科院分区：
文献类型：
--
作者：
Abbasi, AR;Ihara, N;Kunieda, T
日本黑牛先天性多发性眼缺陷（MOD）是一种常染色体隐性遗传的遗传性眼部疾病，表现为晶状体、视网膜和虹膜发育缺陷，胚胎眼血管化持续存在，以及小眼症。在本研究中，我们利用覆盖整个牛基因组的240个微卫星标记和从商业牛群获得的近交系家系，通过连锁分析定位了导致该疾病的位点。连锁分析表明，该疾病位点与牛18号染色体近端标记间存在显著的连锁，最大LOD评分为5.1。利用连锁标记的单倍型进行纯合子定位，进一步细化了关键区域。结果表明，与MOD相关的基因座位于BTA18约6.6 cm的区域。将已发表的BTA18与其进化同源物人类染色体（HSA） 16的连锁和辐射杂交（RH）图谱进行比较，发现了包括MAF和FOXC2基因在内的几个潜在候选基因。
Congenital multiple ocular defects (MOD) in Japanese black cattle is a hereditary ocular disorder with an autosomal recessive manner of inheritance, showing developmental defects of the lens, retina, and iris, persistent embryonic eye vascularization, and microphthalmia. In the present study, we mapped the locus responsible for the disorder by linkage analysis using 240 microsatellite markers covering the entire bovine genome and an inbred pedigree obtained from commercial herds. The linkage analysis demonstrated a significant linkage between the disorder locus and markers on the proximal region of bovine Chromosome (BTA) 18 with the maximum LOD score of 5.1. Homozygosity mapping using the haplotype of the linked markers further refined the critical region. The results revealed the localization of the locus responsible for MOD in an approximately 6.6-cM region of BTA18. Comparison of published linkage and radiation hybrid (RH) maps of BTA18 with its evolutionary ortholog, human Chromosome (HSA) 16, revealed several potential candidate genes for the disorder including the MAF and FOXC2 genes.