Nordestgaard B G, Agerholm-Larsen B, Wittrup H H, Tybjaerg-Hansen A
Department of Clinical Biochemistry, Herlev University Hospital, Denmark.
Scand J Clin Lab Invest Suppl. 1996;226:65-71.
Rapid advances in molecular biology will in the near future allow insight into which mutations are important for determining an individual's susceptibility to cardiovascular disease, as well as to other multifactorial diseases. Methods for diagnosing mutations are today easy to use; however, strategies for determining the effect of a given mutation on phenotype, as well as on the susceptibility of carriers to disease, are less well established. In the present paper, we describe a DNA bank, consisting of more than 10,000 individuals, which--for a given mutation--will allow us to determine its frequency in the general population, the effect of the mutation on phenotype, and its influence on the development of cardiovascular as well as other diseases.
分子生物学的迅速发展将在不久的将来使人们深入了解哪些突变对于确定个体患心血管疾病以及其他多因素疾病的易感性至关重要。如今,诊断突变的方法易于使用;然而,确定特定突变对表型以及携带者对疾病易感性的影响的策略尚未完全确立。在本文中,我们描述了一个由一万多名个体组成的DNA库,对于给定的突变,该库将使我们能够确定其在一般人群中的频率、该突变对表型的影响及其对心血管疾病以及其他疾病发展的影响。