Phillips J A
Department of Pediatrics, Vanderbilt University School of Medicine, Nashville, TN 37232-2578.
South Med J. 1990 Aug;83(8):868-75. doi: 10.1097/00007611-199008000-00005.
Four different ideas are important in understanding the diagnostic applications of DNA analysis. When DNA changes in a gene are detected, one must determine whether they represent DNA polymorphisms (changes not associated with disease) or mutations that affect expression of the gene. Differences seen in mutations in different patients (heterogeneity) often explain clinical variation at a molecular level. Current methods used for gene analysis include restriction enzyme analysis, polymerase chain reaction amplification, allele-specific oligonucleotides, denaturing gradient gels, and DNA sequence analysis. Gene diagnosis is applicable to many clinical disorders, both genetic and acquired. Requisites are a portion of the gene involved or a segment of DNA that lies close to the gene.
理解DNA分析的诊断应用时，有四个不同的概念很重要。当检测到基因中的DNA变化时，必须确定它们是代表DNA多态性（与疾病无关的变化）还是影响基因表达的突变。不同患者中突变的差异（异质性）通常在分子水平上解释了临床差异。目前用于基因分析的方法包括限制性酶切分析、聚合酶链反应扩增、等位基因特异性寡核苷酸、变性梯度凝胶和DNA序列分析。基因诊断适用于许多临床疾病，包括遗传性和后天性疾病。必要条件是涉及的基因部分或与该基因相邻的一段DNA。
