Linkage of Cholestasis Familiaris Groenlandica/Byler-like disease to chromosome 18

Int J Circumpolar Health. 2000 Jan;59(1):57-62.

Abstract

In East Greenland (Tasiilaq) a common recessive disease, Cholestasis Familiaris Groenlandica (CFG)/Byler-like disease, occurs in Eskimo children. Samples from 123 persons, from a large consanguineous pedigree in East Greenland including 7 affected and 3 small families from West Greenland with a total of 4 affected children, have been collected for linkage and homozygosity studies. An earlier hint of linkage to chromosome 18q (lod score of 1.5 to blood group JK) is now raised to a multipoint lod score of Z = 3.25 in the area of the DNA markers D18S851 and D18S858. Different haplotypes follow the disease gene among Inuits in West Greenland and a possibility of locus heterogeneity of CFG between East and West Greenland exist.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Child
  • Cholestasis / genetics*
  • Chromosomes, Human, Pair 18*
  • Female
  • Genetic Linkage*
  • Greenland
  • Humans
  • Inuit / genetics*
  • Male
  • Polymorphism, Genetic