Early authors were under the impression that linkage to complex traits, for which modes of inheritance are not generally known, should be carried out in a non-parametric fashion. However, as shown above and else-where, parametric linkage analysis can be made to handle such situations well.
早期的作者是下的印象是,联系复杂性状,其遗传方式一般不知道,应该在一个参数的方式。然而,如上所示,和其他地方,参数连锁分析可处理这种情况良好。
Homozygosity mapping is another technique that is often considered to be a non-parametric approach to linkage mapping. In fact, this approach assumes a rare disease allele and a recessive mode of inheritance. Such a model leads to a high probability that the genomic region surrounding the disease locus is homozygous in affected individuals owing to the inheritance of the paternal and maternal mutations from a common ancestor. Because this approach relies simply on detecting long stretches of homozygosity in affected individuals, it has the advantage of not requiring any knowledge of the exact pedigree or occurrence of inbreeding for the analysis .
纯映射是另一种技术,通常被认为是一个非参数方法连锁图谱。事实上,这种方法假设一种罕见的疾病等位基因和一个隐性模式的继承权。这种模式导致了高概率的基因组周边地区的疾病基因是在受影响的个人由于继承了父亲和母亲的突变从一个共同祖先。因为这种做法仅仅依靠检测长延伸的纯在受影响的个人,它的优点是不需要任何知识的确切血统或发生近亲交配的分析。
A striking example of homozygosity mapping has recently led to new understanding of the genetics of primary ciliary dyskinesia (PCD), an inherited disorder that is characterized by recurrent infections of the upper and lower respiratory tract. In this example (which was undertaken in dogs), homozygosity mapping in Old English sheepdogs that were found to suffer from a chronic airway inflammation similar to PCD, together with pedigree analysis, demonstrated recessive inheritance of the trait. Genetic studies of five cases and controls identified a 15 Mb segment of homozygosity on dog chromosome 34 that was shared by all cases and contained 151 genes. Systematic analysis identified a mutation in coiled-coil domain containing 39 (CCDC39). This led to the examination of the human orthologue in the human disease; remarkably, loss-of-function mutations in the human orthologue were found to underlie a substantial fraction of PCD cases
一个突出的例子是纯映射最近导致新的了解遗传学的原发性纤毛运动障碍(聚晶金刚石),一种遗传疾病的特点是复发性感染的上、下呼吸道。在这个例子中(这是在狗),纯映射在老英国牧羊犬被发现患有慢性气道炎症类似,结合系谱分析,表明隐性遗传特性。遗传研究的五例和对照确定15段的纯对狗的染色体34是共同的所有情况下包含151个基因。系统分析确定了突变含卷曲螺旋域39(ccdc39)。这导致了考试的人类同源基因在人类疾病的;值得注意的是,丧失功能的突变在人类的同源基因发现背后有相当一部分的情况下
这个太专业了吧。按说专业人士看应该比我们这些门外汉译更简单。是生物医学?