Keating M
Department of Human Genetics, University of Utah Health Sciences Center, Salt Lake City.
Circulation. 1992 Jun;85(6):1973-86. doi: 10.1161/01.cir.85.6.1973.
Recombinant DNA technologies have facilitated the development of a set of polymorphic DNA markers covering the human genome. General linkage analysis in families predisposed to inherited disease is now feasible. Linkage analysis can help identify a disease gene even when relatively little is known about the disorder.
Using this approach, we have identified linkage between a gene that causes the long QT syndrome and DNA markers on chromosome 11.
The identification of the chromosomal location of the long QT locus is the first step in defining the specific mutations that cause this disease.
重组DNA技术推动了覆盖人类基因组的一组多态性DNA标记的发展。对有遗传疾病倾向的家族进行常规连锁分析现已可行。即使对该疾病了解相对较少,连锁分析也有助于识别疾病基因。
采用这种方法,我们已确定导致长QT综合征的基因与11号染色体上的DNA标记之间存在连锁关系。
确定长QT基因座的染色体位置是确定导致该疾病的特定突变的第一步。