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| Predicate | Object |
|---|---|
| rdf:type | |
| lifeskim:mentions | |
| pubmed:issue |
1
|
| pubmed:dateCreated |
1989-5-11
|
| pubmed:abstractText |
The geographical distribution relative to place of residence of patients with myotonic dystrophy (MD) and admitted to a Quebec hospital during a five year period (1980-1984) is presented and discussed. The sample consists of 72 males and 68 females of varying ages over 10 years. Analysis of the data shows a North Shore distribution of patients in a cline from Saguenay-Lac-St-Jean, through Québec City and to Montréal. However, a low prevalence is apparent on the South Shore, east of Québec City, for which an historical and genealogical explanation are discussed. This geographic distribution favours the hypothesis of genetic homogeneity for the MD gene in the Québec population. A stronger second argument comes from genealogical studies of 10 families sampled from the Chicoutimi Muscular Dystrophy Clinic. Genealogical paths traced to ancestors who founded Charlevoix for these 10 families go back to a cluster of 25 founders, one of whom must have been the carrier of the MD gene. The probative third argument for genetic homogeneity comes from the allelic distribution of the apolipoprotein E (ApoE) gene in the Québec City, Saguenay and in families with MD. The ApoE locus is on chromosome 19 and closely linked to MD. In MD-affected individuals there is a linkage disequilibrium for the epsilon 4 allele while non-MD members of these families show allelic frequencies not differing significantly from the control population.(ABSTRACT TRUNCATED AT 250 WORDS)
|
| pubmed:language |
eng
|
| pubmed:journal | |
| pubmed:citationSubset |
IM
|
| pubmed:status |
MEDLINE
|
| pubmed:month |
Feb
|
| pubmed:issn |
0317-1671
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| pubmed:author | |
| pubmed:issnType |
Print
|
| pubmed:volume |
16
|
| pubmed:owner |
NLM
|
| pubmed:authorsComplete |
Y
|
| pubmed:pagination |
123-8
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| pubmed:dateRevised |
2004-11-17
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| pubmed:meshHeading |
pubmed-meshheading:2924206-Adolescent,
pubmed-meshheading:2924206-Adult,
pubmed-meshheading:2924206-Aged,
pubmed-meshheading:2924206-Aged, 80 and over,
pubmed-meshheading:2924206-Child,
pubmed-meshheading:2924206-Female,
pubmed-meshheading:2924206-Humans,
pubmed-meshheading:2924206-Male,
pubmed-meshheading:2924206-Middle Aged,
pubmed-meshheading:2924206-Myotonic Dystrophy,
pubmed-meshheading:2924206-Pedigree,
pubmed-meshheading:2924206-Quebec
|
| pubmed:year |
1989
|
| pubmed:articleTitle |
Myotonic dystrophy in Quebec: geographical distribution and concept of genetic homogeneity.
|
| pubmed:affiliation |
Service de Médecine Génétique, Centre Hospitalier de l'Université Laval, Québec, Ste-Foy, Canada.
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| pubmed:publicationType |
Journal Article
|