Biopolym. Cell. 1990; 6(2):55-60.
http://dx.doi.org/10.7124/bc.00025B
Analysis of restriction polymorphism of D7S23 locus by polymerase chain reaction with KM-19 probe in population and cystic fibrosis families
1Ivashchenko T. E., 1Gorbunova V. N., 1Aseev M. V., 1Baranov V. S., 2Vinogradov S. V., 3Berlin Yu. A., 1Goltzov A. A., 2Kaboev O. K., 2Schwartz E. I.
  1. Institute of Obstetrics and Gynecology, Academy of Medical Sciences of the USSR
    Leningrad, USSR
  2. B. P. Konstantinov Institute of Nuclear Physics, Academy of Sciences of the USSR
    Gatchina, Leningrad distr., USSR
  3. M. M. Shemyakin Institute of Bioorganic Chemistry, Academy of Sciences of the USSR
    Moscow, USSR

Abstract

Highly significant disequilibrium of Al and A2 allelcs rate in population (group I), CF-heterozygotes (group II) and CF patients (group III) has been found with KM-19 probe in polymerase chain reaction, that constitutes 75 % and 25 % for 46 individuals in gr. I, 48 % and 52 % for 51 individuals in gr. II, 0 % and 100 % in 18 individuals of gr. Ill, respectively. These data prove highly nonrandom linkage of A2 allele of KM-19 with CF-gene and Al allele with normal gene and thus significantly extend the capacity of molecular approaches for prenatal diagnosis of CF during early development as well as for CF heterozygotes detection and CF diagnosis postnatally. Some methodological improvements in polymerase chain reaction are discussed.
Full text: (PDF, in Russian)

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