Inference of a gene and its paths of descent: The Newfoundland example

American Journal of Human Biology : the Official Journal of the Human Biology Council
E A Thompson

Abstract

This paper presents various aspects of Pedigree Analysis through a review of a study of a Newfoundland genetic isolate. This study has evolved over a number of years and involved many researchers. The population came to attention due to a greatly enhanced incidence of a variety of lymphoreticular malignancies. Genetic analysis shows clearly that there are (at least) two groups of traits. Whereas the distribution of the leukaemia and lymphosarcoma cases show no clear genealogical pattern, the existence of a single recessive allele causing susceptibility to Hodgkin's disease and immunodeficiency in an isolated New-foundland population can be inferred. There appears to be no heterozygote penetrance, but in the period up to 1974 homozygote penetrance was high and perhaps complete. More important, the ancestral paths of the allele can be inferred. Many ancestral individuals are obligatory carriers, and most others have either probability >95% or <5% of having carried the allele. More recently, methods were developed and applied in order to investigate linkage of this locus to conventional blood group and serum protein marker loci. Although no linkages were found, some observed associations were clarified, and some definite non-linka...Continue Reading

References

Feb 3, 1977·The New England Journal of Medicine·S GruffermanR J Lukes
Apr 15, 1977·International Journal of Cancer. Journal International Du Cancer·W H MarshallB Larsen
Jan 1, 1971·Human Heredity·R C Elston, J Stewart
Jan 1, 1984·Annual Review of Public Health·M C KingM R Wrensch
Dec 1, 1980·Heredity·E A Thompson
Jul 1, 1981·Annals of Human Genetics·E A Thompson

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