From Gene Cloning to Understanding a Disease

Cloning of genes responsible for diseases with Mendelian inheritance is now a routine procedure in the laboratory. When proper patient samples and families are available, it is almost certain that the causative gene will be identified. The Human Genome Project has further facilitated and accelerated disease gene cloning research. Strategies have also been devised to dissect multi-genetic or multifactorial diseases. Our genome project on human chromosome 7 will be used as an example to illustrate how disease gene cloning studies can be conducted. Over 20 disease genes have so far been isolated from our laboratory. Some successful and unexpected examples will be given. Isolation of disease gene is, however, merely the first step in understanding the basic defect of a disease. Our work on cystic fibrosis will be described to show the genetic complexity of a single-gene disorder. First, molecular genetic analysis had led to the identification of over 1,000 sequence variations within the gene. While many mutations are clearly associated with typical CF disease, some are only found in patients with a subset of the CF symptoms; these include disorders such as male infertility, pancreatitis, and even asthma. Moreover, using mouse models, we are beginning to understand the effect of modifier genes in varied disease severity.

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