Biopolym. Cell. 1990; 6(2):5-12.
Present approaches in DNA-diagnosis of hereditary diseases
1Kalinin V. N.
  1. Institute of Medical Genetics, Academy of Medical Sciences of the USSR
    Moscow, USSR

Abstract

Advantage in principle of DNA-diagnosis is that it is performed at the level of the original cause of a hereditary disease, by detection of the damaged gene and identification of the nature of its structural anomaly. DNA-diagnosis is especially effective in prenatal and preclinical diagnosis, in heterozygote carrier detection. DNA-diagnosis is performed by blotting-analysis, a universal methodical approach. Recently a new highly effective method has been developed: a selective amplification of the DNA region under study by the polymerase chain reaction. It is possible to divide the DNA-diagnosis into four basic approaches. They are used: 1) when the damaged gene is known and its mutation is a polynucleotide anomaly in the structure; 2) when the damaged gene has a point mutation of the known nature: 3) when the damaged gene is known, but the nature of its mutations is unknown: 4) when neither damaged gene, not its mutation are known. DNA-diagnosis is now possible to apply in more than 100 hereditary diseases, including the most common diseases: cystic fibrosis, phenylketonuria, thalassemias, hemophilias, etc.

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