Inference of a gene and its paths of descent: The Newfoundland example
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 lymphoret...
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crwiley:10.1002/ajhb.1310020311 2024-06-02T08:10:41+00:00 Inference of a gene and its paths of descent: The Newfoundland example Thompson, E. A. 1990 http://dx.doi.org/10.1002/ajhb.1310020311 https://api.wiley.com/onlinelibrary/tdm/v1/articles/10.1002%2Fajhb.1310020311 https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajhb.1310020311 en eng Wiley http://onlinelibrary.wiley.com/termsAndConditions#vor American Journal of Human Biology volume 2, issue 3, page 291-301 ISSN 1042-0533 1520-6300 journal-article 1990 crwiley https://doi.org/10.1002/ajhb.1310020311 2024-05-03T10:41:06Z 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‐linkages established. Article in Journal/Newspaper Newfoundland Wiley Online Library American Journal of Human Biology 2 3 291 301 |
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English |
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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‐linkages established. |
format |
Article in Journal/Newspaper |
author |
Thompson, E. A. |
spellingShingle |
Thompson, E. A. Inference of a gene and its paths of descent: The Newfoundland example |
author_facet |
Thompson, E. A. |
author_sort |
Thompson, E. A. |
title |
Inference of a gene and its paths of descent: The Newfoundland example |
title_short |
Inference of a gene and its paths of descent: The Newfoundland example |
title_full |
Inference of a gene and its paths of descent: The Newfoundland example |
title_fullStr |
Inference of a gene and its paths of descent: The Newfoundland example |
title_full_unstemmed |
Inference of a gene and its paths of descent: The Newfoundland example |
title_sort |
inference of a gene and its paths of descent: the newfoundland example |
publisher |
Wiley |
publishDate |
1990 |
url |
http://dx.doi.org/10.1002/ajhb.1310020311 https://api.wiley.com/onlinelibrary/tdm/v1/articles/10.1002%2Fajhb.1310020311 https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajhb.1310020311 |
genre |
Newfoundland |
genre_facet |
Newfoundland |
op_source |
American Journal of Human Biology volume 2, issue 3, page 291-301 ISSN 1042-0533 1520-6300 |
op_rights |
http://onlinelibrary.wiley.com/termsAndConditions#vor |
op_doi |
https://doi.org/10.1002/ajhb.1310020311 |
container_title |
American Journal of Human Biology |
container_volume |
2 |
container_issue |
3 |
container_start_page |
291 |
op_container_end_page |
301 |
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1800756585828450304 |