Faculty of Veterinary Science, University of Sydney, Sydney, NSW 2006, Australia.
Anim Genet. 2013 Apr;44(2):231-3. doi: 10.1111/j.1365-2052.2012.02392.x. Epub 2012 Jul 4.
A genome scan was conducted to map the autosomal recessive lethal disorder brachygnathia, cardiomegaly and renal hypoplasia syndrome (BCRHS) in Poll Merino sheep. The scan involved 10 affected and 27 unaffected animals from a single Poll Merino/Merino sheep flock, which were genotyped with the Illumina Ovine SNP50 BeadChip. Association and homozygosity mapping analyses located the disorder in a region comprising 20 consecutive SNPs spanning 1.1 Mb towards the distal end of chromosome OAR2. All affected animals and none of the unaffected animals were homozygous for the associated haplotype in this region. These results provide the basis for identifying the causative mutation(s) and should enable the development of a DNA test to identify carriers in the Poll Merino sheep population. Understanding the molecular control of BCRHS may provide insight into the fundamental genetic control and regulation of the affected organ systems.
对 Poll Merino 绵羊的一种常染色体隐性致死性疾病——短头、心肌肥大和肾发育不全综合征（BCRHS）进行了全基因组扫描，以定位其相关基因。该扫描涉及来自单个 Poll Merino/Merino 绵羊群的 10 只受影响和 27 只未受影响的动物，这些动物使用 Illumina Ovine SNP50 BeadChip 进行了基因分型。关联和纯合性作图分析将该疾病定位在包含 20 个连续 SNP 的区域中，这些 SNP 跨越 OAR2 染色体的远端端 1.1 Mb。该区域中的所有受影响的动物和未受影响的动物均未携带与相关单倍型纯合。这些结果为确定致病突变（s）提供了基础，并应能够开发一种 DNA 测试来识别 Poll Merino 绵羊群体中的携带者。了解 BCRHS 的分子控制可能为受影响的器官系统的基本遗传控制和调节提供了深入了解。
