(ATT) trinucleotide repeats in the antithrombin gene and their use in determining the origin of repeated mutations

Two (ATT) trinucleotide repeat polymorphisms have been identified in the tails of Alu repeat elements in intron 5 of the antithrombin gene. The frequency and distribution of allele sizes for the Alu 5 and Alu 8 tail polymorphisms have been defined in a sample Caucasian population. The Alu 5 polymorp...

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Veröffentlicht in:Human mutation 1994, Vol.4 (1), p.31-41
Hauptverfasser: Olds, Robin J., Lane, David A., Chowdhury, Vijoy, Sas, Geza, Pabinger, Ingrid, Auberger, Karin, Thein, Swee Lay
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container_end_page 41
container_issue 1
container_start_page 31
container_title Human mutation
container_volume 4
creator Olds, Robin J.
Lane, David A.
Chowdhury, Vijoy
Sas, Geza
Pabinger, Ingrid
Auberger, Karin
Thein, Swee Lay
description Two (ATT) trinucleotide repeat polymorphisms have been identified in the tails of Alu repeat elements in intron 5 of the antithrombin gene. The frequency and distribution of allele sizes for the Alu 5 and Alu 8 tail polymorphisms have been defined in a sample Caucasian population. The Alu 5 polymorphism has two alleles while that of Alu 8 has 10 alleles with a heterozygosity of 0.83. These polymorphisms have been used in combination with four previously described polymorphisms within the antithrombin gene to construct antithrombin gene haplotypes in the sample Caucasian population. Twenty‐two different haplotypes were observed, with the Alu 8 polymorphism being particularly useful in subdividing the core haplotype based on the previously identified polymorphisms. The haplotype data were used to investigate the origin of repeat mutations within the antithrombin locus. We compared the haplotypes associated the mutant antithrombin genes in five families with the mutation 2759C→T (L99F) and five families with the mutation 5381C→T (R129Stop). The mutation 2759C→T (L99F), which occurs within a non‐CpG dinucleotide, was carried on a gene associated with an identical haplotype in each of the five families. The mutation 5381C→T (R129Stop), a single base substitution within a CpG dinucleotide, was associated with at least two different haplotypes. The findings suggest a founder effect in the five families sharing the 2759C→T (L99F) and at least two independent origins for the CpG dinucleotide mutation 5381C→T (Rl29Stop). © 1994 Wiley‐Liss, Inc.
doi_str_mv 10.1002/humu.1380040105
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The frequency and distribution of allele sizes for the Alu 5 and Alu 8 tail polymorphisms have been defined in a sample Caucasian population. The Alu 5 polymorphism has two alleles while that of Alu 8 has 10 alleles with a heterozygosity of 0.83. These polymorphisms have been used in combination with four previously described polymorphisms within the antithrombin gene to construct antithrombin gene haplotypes in the sample Caucasian population. Twenty‐two different haplotypes were observed, with the Alu 8 polymorphism being particularly useful in subdividing the core haplotype based on the previously identified polymorphisms. The haplotype data were used to investigate the origin of repeat mutations within the antithrombin locus. We compared the haplotypes associated the mutant antithrombin genes in five families with the mutation 2759C→T (L99F) and five families with the mutation 5381C→T (R129Stop). The mutation 2759C→T (L99F), which occurs within a non‐CpG dinucleotide, was carried on a gene associated with an identical haplotype in each of the five families. The mutation 5381C→T (R129Stop), a single base substitution within a CpG dinucleotide, was associated with at least two different haplotypes. 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Mutat</addtitle><description>Two (ATT) trinucleotide repeat polymorphisms have been identified in the tails of Alu repeat elements in intron 5 of the antithrombin gene. The frequency and distribution of allele sizes for the Alu 5 and Alu 8 tail polymorphisms have been defined in a sample Caucasian population. The Alu 5 polymorphism has two alleles while that of Alu 8 has 10 alleles with a heterozygosity of 0.83. These polymorphisms have been used in combination with four previously described polymorphisms within the antithrombin gene to construct antithrombin gene haplotypes in the sample Caucasian population. Twenty‐two different haplotypes were observed, with the Alu 8 polymorphism being particularly useful in subdividing the core haplotype based on the previously identified polymorphisms. The haplotype data were used to investigate the origin of repeat mutations within the antithrombin locus. 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Lane, David A. ; Chowdhury, Vijoy ; Sas, Geza ; Pabinger, Ingrid ; Auberger, Karin ; Thein, Swee Lay</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c4135-6c33b2924c2c5767081cf189d224508f161aafa248e0872a2cf14127ea1618773</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>1994</creationdate><topic>(ATT) repeats</topic><topic>Alu sequence</topic><topic>Alu tails</topic><topic>Antithrombin</topic><topic>Antithrombins - genetics</topic><topic>ATT trinucleotide repeat</topic><topic>Base Sequence</topic><topic>DNA Primers - genetics</topic><topic>European Continental Ancestry Group - genetics</topic><topic>Gene Frequency</topic><topic>genes</topic><topic>Haplotypes</topic><topic>Humans</topic><topic>man</topic><topic>Molecular Sequence Data</topic><topic>Mutation</topic><topic>mutation rates</topic><topic>Oligodeoxyribonucleotides - genetics</topic><topic>Polymorphism, Genetic</topic><topic>Repeat mutations</topic><topic>repeated sequence</topic><topic>Repetitive Sequences, Nucleic Acid</topic><topic>restriction fragment length polymorphism</topic><topic>Terminology as Topic</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Olds, Robin J.</creatorcontrib><creatorcontrib>Lane, David A.</creatorcontrib><creatorcontrib>Chowdhury, Vijoy</creatorcontrib><creatorcontrib>Sas, Geza</creatorcontrib><creatorcontrib>Pabinger, Ingrid</creatorcontrib><creatorcontrib>Auberger, Karin</creatorcontrib><creatorcontrib>Thein, Swee Lay</creatorcontrib><collection>Istex</collection><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>Human Genome Abstracts</collection><collection>Technology Research Database</collection><collection>Engineering Research Database</collection><collection>Biotechnology and BioEngineering Abstracts</collection><collection>MEDLINE - Academic</collection><jtitle>Human mutation</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Olds, Robin J.</au><au>Lane, David A.</au><au>Chowdhury, Vijoy</au><au>Sas, Geza</au><au>Pabinger, Ingrid</au><au>Auberger, Karin</au><au>Thein, Swee Lay</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>(ATT) trinucleotide repeats in the antithrombin gene and their use in determining the origin of repeated mutations</atitle><jtitle>Human mutation</jtitle><addtitle>Hum. 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subjects (ATT) repeats
Alu sequence
Alu tails
Antithrombin
Antithrombins - genetics
ATT trinucleotide repeat
Base Sequence
DNA Primers - genetics
European Continental Ancestry Group - genetics
Gene Frequency
genes
Haplotypes
Humans
man
Molecular Sequence Data
Mutation
mutation rates
Oligodeoxyribonucleotides - genetics
Polymorphism, Genetic
Repeat mutations
repeated sequence
Repetitive Sequences, Nucleic Acid
restriction fragment length polymorphism
Terminology as Topic
title (ATT) trinucleotide repeats in the antithrombin gene and their use in determining the origin of repeated mutations
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