A founding LRRK2 haplotype shared by Tunisian, US, European and Middle Eastern families with Parkinson's disease.
Identifieur interne : 000B78 ( Main/Merge ); précédent : 000B77; suivant : 000B79A founding LRRK2 haplotype shared by Tunisian, US, European and Middle Eastern families with Parkinson's disease.
Auteurs : L. Warren [États-Unis] ; R. Gibson ; L. Ishihara ; R. Elango ; Z. Xue ; A. Akkari ; L. Ragone ; Rajesh Pahwa ; Joseph Jankovic [États-Unis] ; Martha Nance ; Alan Freeman ; Ray. Watts ; F. HentatiSource :
- Parkinsonism & related disorders [ 1353-8020 ] ; 2008.
Descripteurs français
- Wicri :
- geographic : Tunisie, États-Unis.
English descriptors
- KwdEn :
- MESH :
- chemical , genetics : Protein-Serine-Threonine Kinases.
- geographic : Europe, Middle East, Tunisia, United States.
- genetics : Parkinson Disease.
- Adult, Aged, Female, Founder Effect, Genotype, Haplotypes, Humans, Male, Middle Aged, Mutation, Polymorphism, Single Nucleotide.
Abstract
The Leucine-rich repeat kinase 2 (LRRK2) gene has been identified as a disease susceptibility gene for Parkinson's disease (PD), with G2019 (6055G>A) being the most frequent mutation. This mutation was present in 42% (38/91) of Tunisian families and 2% (1/39) of US families we have studied. A founding haplotype was identified in our data and it is shared by families from Tunisia, US, European and Middle Eastern countries. The most recent common founder of the mutation was dated to 2600 (95% CI: 1950-3850) years ago although additional studies are warranted to ensure an accurate age estimate for this mutation.
DOI: 10.1016/j.parkreldis.2007.02.001
PubMed: 17433753
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pubmed:17433753Le document en format XML
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<series><title level="j">Parkinsonism & related disorders</title>
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<term>Aged</term>
<term>Europe</term>
<term>Female</term>
<term>Founder Effect</term>
<term>Genotype</term>
<term>Haplotypes</term>
<term>Humans</term>
<term>Male</term>
<term>Middle Aged</term>
<term>Middle East</term>
<term>Mutation</term>
<term>Parkinson Disease (genetics)</term>
<term>Polymorphism, Single Nucleotide</term>
<term>Protein-Serine-Threonine Kinases (genetics)</term>
<term>Tunisia</term>
<term>United States</term>
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<keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>Protein-Serine-Threonine Kinases</term>
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<term>Middle East</term>
<term>Tunisia</term>
<term>United States</term>
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<keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Parkinson Disease</term>
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<keywords scheme="MESH" xml:lang="en"><term>Adult</term>
<term>Aged</term>
<term>Female</term>
<term>Founder Effect</term>
<term>Genotype</term>
<term>Haplotypes</term>
<term>Humans</term>
<term>Male</term>
<term>Middle Aged</term>
<term>Mutation</term>
<term>Polymorphism, Single Nucleotide</term>
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<front><div type="abstract" xml:lang="en">The Leucine-rich repeat kinase 2 (LRRK2) gene has been identified as a disease susceptibility gene for Parkinson's disease (PD), with G2019 (6055G>A) being the most frequent mutation. This mutation was present in 42% (38/91) of Tunisian families and 2% (1/39) of US families we have studied. A founding haplotype was identified in our data and it is shared by families from Tunisia, US, European and Middle Eastern countries. The most recent common founder of the mutation was dated to 2600 (95% CI: 1950-3850) years ago although additional studies are warranted to ensure an accurate age estimate for this mutation.</div>
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