Genetic differences between cystic fibrosis with and without meconium ileus

Lancet. 1988 Feb 20;1(8582):376-8. doi: 10.1016/s0140-6736(88)91180-4.

Abstract

41 families with cystic fibrosis, (CF) were tested for restriction fragment length polymorphisms (RFLPs) detected by four DNA probes all of which are tightly linked to the CF gene. 17 of the families had an affected child with, and 24 had one without, meconium ileus. In all cases, CF segregates with these gene probes; however, those with and those without meconium ileus differed in haplotype for CF chromosomes with respect to pJ3.11, which suggests that because of multiallelism (different mutations of the same locus) some CF patients present with meconium ileus and others do not.

Publication types

  • Comparative Study

MeSH terms

  • Alleles
  • Cystic Fibrosis / complications
  • Cystic Fibrosis / genetics*
  • Haplotypes
  • Humans
  • Infant, Newborn
  • Intestinal Obstruction / etiology
  • Intestinal Obstruction / genetics*
  • Meconium / metabolism*
  • Polymorphism, Restriction Fragment Length