[Use of the recombinant DNA technic in studying cystic fibrosis in 14 Spanish families: detection of carriers and healthy subjects]

An Esp Pediatr. 1989 Apr;30(4):251-4.
[Article in Spanish]

Abstract

Fourteen Spanish families, containing at least one affected child with cystic fibrosis, were typed for restriction fragment length polymorphisms (RFLPs) by proper pJ3.11, pmet H and pmet D. Nine (64.3%) were fully informative for prenatal diagnosis and carrier detection; four (28.5%) were partially informative and prenatal exclusion of an affected fetus could be carried out in half of pregnancies. One (7.1%) was uninformative for these probes. Allelic frequencies obtained have also been analized, being pJ3.11 probe the most informative in our families.

Publication types

  • English Abstract
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Alleles
  • Child
  • Cystic Fibrosis / genetics*
  • DNA, Recombinant*
  • Female
  • Gene Frequency
  • Genetic Counseling
  • Haplotypes
  • Heterozygote*
  • Humans
  • Male
  • Pedigree
  • Polymorphism, Genetic*
  • Polymorphism, Restriction Fragment Length*
  • Pregnancy
  • Prenatal Diagnosis

Substances

  • DNA, Recombinant