[The use of restriction fragment length polymorphisms for diagnosis: the estimation of diagnosable rate of more than one genetic markers].
As a codominant genetic marker, restriction fragment length polymorphisms, referred as RFLPs, 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 proposed in the cases of two or more genetic markers. The estimation is applicable to the cases of autosomal recessive and dominant disease, as well as those of X-linked recessive and dominant diseases. The diagnosable rate of two or more genetic markers is based on the distribution of haplotypes. Thus in the case when n genetic markers being used, the disagnosable rate, or the fraction of matings in which the A2A2 fetus could be confirmed or ruled out by the fetal restriction fragment patterns in the A1A2 X A1A2 matings, is expressed as follows: [formula: see text] where A2 is a recessive deleterious gene, yi is the frequency of the genotype of ith type individuals, and M is the total number of combination of n markers. It is a valuable strategy to use more than one genetic markers in order to increase the diagnosable rate. By using the data of the distribution of haplotypes, it is easy to find the most usable genetic markers or their combinations.
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D030342:Genetic Diseases, Inborn / Q000175:diagnosis*; D005819:Genetic Markers; D006239:Haplotypes; D006801:Humans; D012150:Polymorphism, Restriction Fragment Length; D011296:Prenatal Diagnosis / Q000379:methods
D005819:Genetic Markers