Linkage of Cholestasis Familiaris Groenlandica/Byler-like disease to chromosome 18.
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.
Eiberg
H
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University Institute of Medical Biochemistry and Genetics, Copenhagen, Denmark. he@rclink.imbg.ku.dk
Nielsen
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IM
D002648:Child; D002779:Cholestasis / Q000235:genetics*; D002887:Chromosomes, Human, Pair 18; D005260:Female; D008040:Genetic Linkage; D006116:Greenland; D006801:Humans; D004930:Inuit / Q000235:genetics*; D008297:Male; D011110:Polymorphism, Genetic