Pedigree analysis of Hodgkin's disease in a Newfoundland genealogy. 1981

E A Thompson

An extensive Newfoundland genealogy shows a large number of cases of lymphoreticular malignancies. A recessive pattern of inheritance had been previously suggested, but no quantitative investigation of the hypothesis was made. Here we have investigated a variety of aspects of the descent structure of the pedigree and shown that for only a subset of the traits can the inference be upheld. For Hodgkin's disease (HD) and generalized immunodeficiency (ID) there is clear evidence for a recessive HD/ID susceptibility allele. The remainder do not follow this pattern, show no evidence of a single-locus effect and little of any genetic effect. The ancestry of the HD/ID cases was therefore investigated in detail, and likelihoods computed on the pedigree. These confirmed the recessive nature of the trait, as also did the risk analysis which quite clearly identified the paths of descent taken by the allele. The determination of these paths is a prerequisite for any linkage analysis which might further confirm the single-locus nature of the trait.

UI MeSH Term Description Entries
D008297 Male Males
D008957 Models, Genetic Theoretical representations that simulate the behavior or activity of genetic processes or phenomena. They include the use of mathematical equations, computers, and other electronic equipment. Genetic Models,Genetic Model,Model, Genetic
D009523 Newfoundland and Labrador Province of Canada consisting of the island of Newfoundland and an area of Labrador. Its capital is St. John's. Labrador,Newfoundland
D010375 Pedigree The record of descent or ancestry, particularly of a particular condition or trait, indicating individual family members, their relationships, and their status with respect to the trait or condition. Family Tree,Genealogical Tree,Genealogic Tree,Genetic Identity,Identity, Genetic,Family Trees,Genealogic Trees,Genealogical Trees,Genetic Identities,Identities, Genetic,Tree, Family,Tree, Genealogic,Tree, Genealogical,Trees, Family,Trees, Genealogic,Trees, Genealogical
D005260 Female Females
D005787 Gene Frequency The proportion of one particular in the total of all ALLELES for one genetic locus in a breeding POPULATION. Allele Frequency,Genetic Equilibrium,Equilibrium, Genetic,Allele Frequencies,Frequencies, Allele,Frequencies, Gene,Frequency, Allele,Frequency, Gene,Gene Frequencies
D005808 Genes, Recessive Genes that influence the PHENOTYPE only in the homozygous state. Conditions, Recessive Genetic,Genetic Conditions, Recessive,Recessive Genetic Conditions,Condition, Recessive Genetic,Gene, Recessive,Genetic Condition, Recessive,Recessive Gene,Recessive Genes,Recessive Genetic Condition
D006579 Heterozygote An individual having different alleles at one or more loci regarding a specific character. Carriers, Genetic,Genetic Carriers,Carrier, Genetic,Genetic Carrier,Heterozygotes
D006689 Hodgkin Disease A malignant disease characterized by progressive enlargement of the lymph nodes, spleen, and general lymphoid tissue. In the classical variant, giant usually multinucleate Hodgkin's and REED-STERNBERG CELLS are present; in the nodular lymphocyte predominant variant, lymphocytic and histiocytic cells are seen. Granuloma, Hodgkin,Granuloma, Malignant,Hodgkin Lymphoma,Lymphogranuloma, Malignant,Granuloma, Hodgkin's,Granuloma, Hodgkins,Hodgkin Lymphoma, Adult,Hodgkin's Disease,Hodgkin's Lymphoma,Hodgkins Disease,Lymphocyte Depletion Hodgkin's Lymphoma,Lymphocyte-Rich Classical Hodgkin's Lymphoma,Mixed Cellularity Hodgkin's Lymphoma,Nodular Lymphocyte-Predominant Hodgkin's Lymphoma,Nodular Sclerosing Hodgkin's Lymphoma,Adult Hodgkin Lymphoma,Disease, Hodgkin,Disease, Hodgkin's,Disease, Hodgkins,Hodgkin Granuloma,Hodgkin's Granuloma,Hodgkins Granuloma,Hodgkins Lymphoma,Lymphocyte Rich Classical Hodgkin's Lymphoma,Lymphogranulomas, Malignant,Lymphoma, Hodgkin,Lymphoma, Hodgkin's,Malignant Granuloma,Malignant Granulomas,Malignant Lymphogranuloma,Malignant Lymphogranulomas,Nodular Lymphocyte Predominant Hodgkin's Lymphoma
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man

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