论文部分内容阅读
医学研究最基本的是做出精确诊断。用遗传学的话说,若想排除变异的基因型,则必须精确判定突变的表型。但精确的诊断并不能保证表型及其相应基因型直接相关。例如,结节状硬化症(TSC)和Ⅰ型遗传性运动和感觉神经病变(CMT)是由两个或更多位点的突变而引起的,反之,两种截然不同的疾病临床表现却相似,说明不能是单一位点上等位基因的遗传异质性导致不同的表型。对Duchenne和Becker肌营养不良症(DMD和BMD)家系的连锁分析结果支持临床医生关于此两种疾病是等位基因控制的
The most basic medical research is to make a precise diagnosis. In the case of genetics, if you want to exclude the genotype of the mutation, you must accurately determine the phenotype of the mutation. However, accurate diagnosis does not guarantee the phenotype and its corresponding genotypes are directly related. For example, nodular sclerosis (TSC) and type I hereditary motor and sensory neuropathies (CMT) are caused by mutations in two or more loci, whereas the clinical manifestations of two distinct diseases are similar , Indicating that the genetic heterogeneity of alleles at a single locus can not lead to different phenotypes. The results of a linkage analysis of the pedigrees of Duchenne and Becker muscular dystrophy (DMD and BMD) support clinicians that the two diseases are allele-controlled