Jin L, Liu T T
Institute of Genetics, Fudan University, Shanghai, P.R. China.
Hemoglobin. 1988;12(5-6):773-86. doi: 10.3109/03630268808991670.
As a codominant genetic marker, restriction fragment length polymorphism (RFLP) has been widely applied to the prenatal diagnosis of some genetic diseases. To evaluate the usefulness of the genetic markers in prenatal diagnosis, a parameter, the diagnosable rate or the proportion of diagnosable matings, is estimated when two or more genetic markers are used. The assessment is based on the distribution of haplotypes. By using the data of the distribution of haplotypes of beta-A (normal) and beta-T (beta-thalassemia) chromosomes in a Chinese population and the formula given, it is easy to calculate the different diagnosable rates of all the combinations of seven given genetic markers. The results could help us to find an appropriate combination of genetic markers in prenatal diagnosis and, therefore, makes it possible to obtain a sufficiently high diagnosable value with a limited number of genetic markers.
作为一种共显性遗传标记，限制性片段长度多态性（RFLP）已被广泛应用于某些遗传病的产前诊断。为了评估遗传标记在产前诊断中的实用性，当使用两个或更多遗传标记时，会估计一个参数，即可诊断率或可诊断交配的比例。该评估基于单倍型的分布。利用中国人群中β-A（正常）和β-T（β-地中海贫血）染色体单倍型分布的数据以及给出的公式，可以很容易地计算出七种给定遗传标记所有组合的不同可诊断率。这些结果有助于我们在产前诊断中找到合适的遗传标记组合，从而有可能用有限数量的遗传标记获得足够高的可诊断值。
