The gene for severe combined immunodeficiency disease in Athabascan-speaking Native Americans is located on chromosome 10p.
Severe combined immunodeficiency disease (SCID) consists of a group of heterogeneous genetic disorders. The most severe phenotype, T-B- SCID, is inherited as an autosomal recessive trait and is characterized by a profound deficiency of both T cell and B cell immunity. There is a uniquely high freque...
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ftpubmed:oai:pubmedcentral.nih.gov:1376812 2023-05-15T15:26:08+02:00 The gene for severe combined immunodeficiency disease in Athabascan-speaking Native Americans is located on chromosome 10p. Li, L Drayna, D Hu, D Hayward, A Gahagan, S Pabst, H Cowan, M J 1998-01 http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1376812 http://www.ncbi.nlm.nih.gov/pubmed/9443881 en eng http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1376812 http://www.ncbi.nlm.nih.gov/pubmed/9443881 Research Article Text 1998 ftpubmed 2013-08-30T21:30:48Z Severe combined immunodeficiency disease (SCID) consists of a group of heterogeneous genetic disorders. The most severe phenotype, T-B- SCID, is inherited as an autosomal recessive trait and is characterized by a profound deficiency of both T cell and B cell immunity. There is a uniquely high frequency of T-B- SCID among Athabascan-speaking Native Americans (A-SCID). To localize the A-SCID gene, we conducted a genomewide search, using linkage analysis of approximately 300 microsatellite markers in 14 affected Athabascan-speaking Native American families. We obtained conclusive evidence for linkage of the A-SCID locus to markers on chromosome 10p. The maximum pairwise LOD scores 4.53 and 4.60 were obtained from two adjacent markers, D10S191 and D10S1653, respectively, at a recombination fraction of straight theta=.00. Recombination events placed the gene in an interval of approximately 6.5 cM flanked by D10S1664 and D10S674. Multipoint analysis positioned the gene for the A-SCID phenotype between D10S191 and D10S1653, with a peak LOD score of 5.10 at D10S191. Strong linkage disequilibrium was found in five linked markers spanning approximately 6.5 cM in the candidate region, suggesting a founder effect with an ancestral mutation that occurred sometime before 1300 A.D. Text Athabascan PubMed Central (PMC) |
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Research Article Li, L Drayna, D Hu, D Hayward, A Gahagan, S Pabst, H Cowan, M J The gene for severe combined immunodeficiency disease in Athabascan-speaking Native Americans is located on chromosome 10p. |
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Research Article |
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Severe combined immunodeficiency disease (SCID) consists of a group of heterogeneous genetic disorders. The most severe phenotype, T-B- SCID, is inherited as an autosomal recessive trait and is characterized by a profound deficiency of both T cell and B cell immunity. There is a uniquely high frequency of T-B- SCID among Athabascan-speaking Native Americans (A-SCID). To localize the A-SCID gene, we conducted a genomewide search, using linkage analysis of approximately 300 microsatellite markers in 14 affected Athabascan-speaking Native American families. We obtained conclusive evidence for linkage of the A-SCID locus to markers on chromosome 10p. The maximum pairwise LOD scores 4.53 and 4.60 were obtained from two adjacent markers, D10S191 and D10S1653, respectively, at a recombination fraction of straight theta=.00. Recombination events placed the gene in an interval of approximately 6.5 cM flanked by D10S1664 and D10S674. Multipoint analysis positioned the gene for the A-SCID phenotype between D10S191 and D10S1653, with a peak LOD score of 5.10 at D10S191. Strong linkage disequilibrium was found in five linked markers spanning approximately 6.5 cM in the candidate region, suggesting a founder effect with an ancestral mutation that occurred sometime before 1300 A.D. |
format |
Text |
author |
Li, L Drayna, D Hu, D Hayward, A Gahagan, S Pabst, H Cowan, M J |
author_facet |
Li, L Drayna, D Hu, D Hayward, A Gahagan, S Pabst, H Cowan, M J |
author_sort |
Li, L |
title |
The gene for severe combined immunodeficiency disease in Athabascan-speaking Native Americans is located on chromosome 10p. |
title_short |
The gene for severe combined immunodeficiency disease in Athabascan-speaking Native Americans is located on chromosome 10p. |
title_full |
The gene for severe combined immunodeficiency disease in Athabascan-speaking Native Americans is located on chromosome 10p. |
title_fullStr |
The gene for severe combined immunodeficiency disease in Athabascan-speaking Native Americans is located on chromosome 10p. |
title_full_unstemmed |
The gene for severe combined immunodeficiency disease in Athabascan-speaking Native Americans is located on chromosome 10p. |
title_sort |
gene for severe combined immunodeficiency disease in athabascan-speaking native americans is located on chromosome 10p. |
publishDate |
1998 |
url |
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1376812 http://www.ncbi.nlm.nih.gov/pubmed/9443881 |
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Athabascan |
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Athabascan |
op_relation |
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1376812 http://www.ncbi.nlm.nih.gov/pubmed/9443881 |
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1766356689923080192 |