Linkage of G8 (D4S10) in two Swedish families with Huntington's disease
Two Swedish families with Huntington's disease (HD) have been investigated for linkage with G8 (D4S10). In one family from northern Sweden (Family 1) 48 family members were examined, and in another family from the southwestern part of Sweden (Family 2) 14 family members were examined. The lod s...
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crwiley:10.1111/j.1399-0004.1987.tb03292.x 2024-06-02T08:12:10+00:00 Linkage of G8 (D4S10) in two Swedish families with Huntington's disease Holmgren, G. Almqvtst, E. Winnberg Anyret, M. Conneally, M. Hobbs, W. Mattsson, B. Wahlström, J. Winblad, B. Gusella, J. F. 1987 http://dx.doi.org/10.1111/j.1399-0004.1987.tb03292.x https://api.wiley.com/onlinelibrary/tdm/v1/articles/10.1111%2Fj.1399-0004.1987.tb03292.x https://onlinelibrary.wiley.com/doi/pdf/10.1111/j.1399-0004.1987.tb03292.x en eng Wiley http://onlinelibrary.wiley.com/termsAndConditions#vor Clinical Genetics volume 32, issue 5, page 289-294 ISSN 0009-9163 1399-0004 journal-article 1987 crwiley https://doi.org/10.1111/j.1399-0004.1987.tb03292.x 2024-05-03T11:27:54Z Two Swedish families with Huntington's disease (HD) have been investigated for linkage with G8 (D4S10). In one family from northern Sweden (Family 1) 48 family members were examined, and in another family from the southwestern part of Sweden (Family 2) 14 family members were examined. The lod scores were 1.531 for Family 1 and 2.057 for Family 2, and the combined lod score was 3.59. The HD gene was segregating with the haplotype C in Family 1 and with haplotype A in Family 2. The predictive value of the test was obvious. Before the testing with the G8 probe, 84.2% of the family members in Family 1 had a theoretical risk of 25% or 50% of having the HD gene. After the testing with the G8 probe, only 23.7% of the family members remained at the same risk, and it could also be certified that 63.2% had no or little risk of having the HD gene. Only one asymptomatic person was predicted to have HD. Article in Journal/Newspaper Northern Sweden Wiley Online Library Clinical Genetics 32 5 289 294 |
institution |
Open Polar |
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Wiley Online Library |
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crwiley |
language |
English |
description |
Two Swedish families with Huntington's disease (HD) have been investigated for linkage with G8 (D4S10). In one family from northern Sweden (Family 1) 48 family members were examined, and in another family from the southwestern part of Sweden (Family 2) 14 family members were examined. The lod scores were 1.531 for Family 1 and 2.057 for Family 2, and the combined lod score was 3.59. The HD gene was segregating with the haplotype C in Family 1 and with haplotype A in Family 2. The predictive value of the test was obvious. Before the testing with the G8 probe, 84.2% of the family members in Family 1 had a theoretical risk of 25% or 50% of having the HD gene. After the testing with the G8 probe, only 23.7% of the family members remained at the same risk, and it could also be certified that 63.2% had no or little risk of having the HD gene. Only one asymptomatic person was predicted to have HD. |
format |
Article in Journal/Newspaper |
author |
Holmgren, G. Almqvtst, E. Winnberg Anyret, M. Conneally, M. Hobbs, W. Mattsson, B. Wahlström, J. Winblad, B. Gusella, J. F. |
spellingShingle |
Holmgren, G. Almqvtst, E. Winnberg Anyret, M. Conneally, M. Hobbs, W. Mattsson, B. Wahlström, J. Winblad, B. Gusella, J. F. Linkage of G8 (D4S10) in two Swedish families with Huntington's disease |
author_facet |
Holmgren, G. Almqvtst, E. Winnberg Anyret, M. Conneally, M. Hobbs, W. Mattsson, B. Wahlström, J. Winblad, B. Gusella, J. F. |
author_sort |
Holmgren, G. |
title |
Linkage of G8 (D4S10) in two Swedish families with Huntington's disease |
title_short |
Linkage of G8 (D4S10) in two Swedish families with Huntington's disease |
title_full |
Linkage of G8 (D4S10) in two Swedish families with Huntington's disease |
title_fullStr |
Linkage of G8 (D4S10) in two Swedish families with Huntington's disease |
title_full_unstemmed |
Linkage of G8 (D4S10) in two Swedish families with Huntington's disease |
title_sort |
linkage of g8 (d4s10) in two swedish families with huntington's disease |
publisher |
Wiley |
publishDate |
1987 |
url |
http://dx.doi.org/10.1111/j.1399-0004.1987.tb03292.x https://api.wiley.com/onlinelibrary/tdm/v1/articles/10.1111%2Fj.1399-0004.1987.tb03292.x https://onlinelibrary.wiley.com/doi/pdf/10.1111/j.1399-0004.1987.tb03292.x |
genre |
Northern Sweden |
genre_facet |
Northern Sweden |
op_source |
Clinical Genetics volume 32, issue 5, page 289-294 ISSN 0009-9163 1399-0004 |
op_rights |
http://onlinelibrary.wiley.com/termsAndConditions#vor |
op_doi |
https://doi.org/10.1111/j.1399-0004.1987.tb03292.x |
container_title |
Clinical Genetics |
container_volume |
32 |
container_issue |
5 |
container_start_page |
289 |
op_container_end_page |
294 |
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1800758524768157696 |