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The western Swedish...
The western Swedish BRCA1 founder mutation 3171ins5; a 3.7 cM conserved haplotype of today is a reminiscence of a 1500-year-old mutation
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- Bergman, Annika (författare)
- Gothenburg University,Göteborgs universitet,Institutionen för kvinnors och barns hälsa, Avdelningen för pediatrik,Institute for the Health of Women and Children, Dept of Paediatrics,Department of Clinical Genetics, Göteborg University, Sahlgrenska University Hospital, Göteborg, Sweden
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- Einbeigi, Zakaria, 1962 (författare)
- Gothenburg University,Göteborgs universitet,Institutionen för särskilda specialiteter, Avdelningen för onkologi,Institute of Selected Clinical Sciences, Department of Oncology,Department of Oncology, Göteborg University, Sahlgrenska University Hospital, Göteborg, Sweden
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- Olofsson, Ulrica, 1974 (författare)
- Gothenburg University,Göteborgs universitet,Institutionen för matematik, Matematisk statistik,Department of Mathematics, Mathematical Statistics,Department of Mathematical Statistics, Chalmers University of Technology, Göteborg University, Göteborg, Sweden
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- Taib, Ziad, 1953 (författare)
- Gothenburg University,Göteborgs universitet,Institutionen för matematik, Matematisk statistik,Department of Mathematics, Mathematical Statistics,Department of Mathematical Statistics, Chalmers University of Technology, Göteborg University, Göteborg, Sweden
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- Wallgren, Arne, 1940 (författare)
- Gothenburg University,Göteborgs universitet,Institutionen för särskilda specialiteter, Avdelningen för onkologi,Institute of Selected Clinical Sciences, Department of Oncology,Department of Oncology, Göteborg University, Sahlgrenska University Hospital, Göteborg, Sweden
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- Karlsson, Per, 1963 (författare)
- Gothenburg University,Göteborgs universitet,Institutionen för särskilda specialiteter, Avdelningen för onkologi,Institute of Selected Clinical Sciences, Department of Oncology,Department of Oncology, Göteborg University, Sahlgrenska University Hospital, Göteborg, Sweden
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- Wahlström, Jan, 1939 (författare)
- Gothenburg University,Göteborgs universitet,Institutionen för kvinnors och barns hälsa, Avdelningen för pediatrik,Institute for the Health of Women and Children, Dept of Paediatrics,Department of Clinical Genetics, Göteborg University, Sahlgrenska University Hospital, Göteborg, Sweden
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- Martinsson, Tommy, 1956 (författare)
- Gothenburg University,Göteborgs universitet,Institutionen för kvinnors och barns hälsa, Avdelningen för pediatrik,Institute for the Health of Women and Children, Dept of Paediatrics,Department of Clinical Genetics, Göteborg University, Sahlgrenska University Hospital, Göteborg, Sweden
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- Nordling, Margareta, 1962 (författare)
- Gothenburg University,Göteborgs universitet,Institutionen för kvinnors och barns hälsa, Avdelningen för pediatrik,Institute for the Health of Women and Children, Dept of Paediatrics,Department of Clinical Genetics, Göteborg University, Sahlgrenska University Hospital, Göteborg, Sweden
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(creator_code:org_t)
- 2001-10-19
- 2001
- Engelska.
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Ingår i: European Journal of Human Genetics. - : Nature Publishing Group. - 1018-4813 .- 1476-5438. ; 9:10, s. 787-793
- Relaterad länk:
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https://www.nature.c...
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http://dx.doi.org/10...
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https://urn.kb.se/re...
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Abstract
Ämnesord
Stäng
- The most recurrent BRCA1/BRCA2 mutation in Sweden is the BRCA1 mutation 3171ins5. In the western part of Sweden this mutation accounts for as much as 77% of identified mutations in these two genes. Our aim was to analyse in detail the haplotype and founder effects of the 3171ins5 and furthermore attempt to estimate the time of origin of the mutation. In the study we included eighteen apparently unrelated families with hereditary breast and/or ovarian cancer. At least one individual in each family had previously tested positive for the 3171ins5 mutation. Polymorphic microsatellite markers were used for the haplotype analyses. The markers were located within or flanking the BRCA1 gene spanning a region of 17.3 cΜ. We found several different haplotypes both for disease alleles and for the normal alleles. However, a conserved haplotype of 3.7 cΜ was observed in the 3171ins5 carriers spanning over four markers located within or very close to the BRCA1 gene. As this haplotype was not present in any of the normal controls it is highly likely that this is a mutation identical by descent, i.e. a true founder. The results from the haplotype analyses were used to estimate the age of the mutation. Estimations based on the Pexcess and linkage disequilibrium gives a first appearance of the mutation sometime around the 6th century, approximately 50 generations ago.
Ämnesord
- MEDICIN OCH HÄLSOVETENSKAP -- Medicinska och farmaceutiska grundvetenskaper -- Medicinsk genetik (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Basic Medicine -- Medical Genetics (hsv//eng)
Nyckelord
- BRCA1 gene
- Breast neoplasm
- Founder effect
- Haplotype
- Ovarian neoplasm
- BRCA1 protein
- BRCA2 protein
- microsatellite DNA
- age
- allele
- article
- breast cancer
- clinical observation
- controlled study
- familial cancer
- family
- gene linkage disequilibrium
- gene mutation
- genetic conservation
- genetic polymorphism
- heterozygote
- human
- ovary cancer
- phylogeny
- priority journal
- Sweden
- time
- Breast Neoplasms
- Conserved Sequence
- DNA Mutational Analysis
- Female
- Geography
- Haplotypes
- Humans
- Male
- Microsatellite Repeats
- Mutagenesis
- Insertional
- Mutation
- Pedigree
- Time Factors
- BRCA1 Protein
- genetics
- Breast Neoplasms
- Conserved Sequence
- DNA Mutational Analysis
- Female
- Founder Effect
- Geography
- Haplotypes
- Humans
- Male
- Microsatellite Repeats
- Mutagenesis
- Insertional
- Mutation
- Pedigree
- Sweden
- Time Factors
Publikations- och innehållstyp
- ref (ämneskategori)
- art (ämneskategori)
Hitta via bibliotek
Till lärosätets databas
- Av författaren/redakt...
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Bergman, Annika
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Einbeigi, Zakari ...
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Olofsson, Ulrica ...
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Taib, Ziad, 1953
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Wallgren, Arne, ...
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Karlsson, Per, 1 ...
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visa fler...
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Wahlström, Jan, ...
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Martinsson, Tomm ...
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Nordling, Margar ...
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- Om ämnet
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- MEDICIN OCH HÄLSOVETENSKAP
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MEDICIN OCH HÄLS ...
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och Medicinska och f ...
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och Medicinsk geneti ...
- Artiklar i publikationen
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European Journal ...
- Av lärosätet
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Jönköping University
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Chalmers tekniska högskola
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Göteborgs universitet