Does (CUG)n repeat in DMPK mRNA ‘paint’ chromosome 19 to suppress distant genes to create the diverse phenotype of myotonic dystrophy?:

Neurogenetics ◽  
2001 ◽  
Vol 3 (2) ◽  
pp. 59-67 ◽  
Author(s):  
R.P. Junghans ◽  
A. Ebralidze ◽  
B. Tiwari
Keyword(s):  
Myotonic Dystrophy ◽  
Chromosome 19

Regional localisations and linkage relationships of seven RFLPs and myotonic dystrophy on chromosome 19

1986 ◽  
Vol 74 (3) ◽  
Author(s):  
D.J. Shaw ◽  
A.L. Meredith ◽  
M. Sarfarazi ◽  
H.G. Harley ◽  
S.M. Huson ◽  
...  
Keyword(s):  
Myotonic Dystrophy ◽  
Chromosome 19 ◽  
Linkage Relationships

Physical and genetic mapping of a novel chromosome 19 ERCC1 marker showing close linkage with myotonic dystrophy

Genomics ◽  
1991 ◽  
Vol 9 (3) ◽  
pp. 500-504 ◽  
Author(s):  
Gary Shutler ◽  
Alex E. MacKenzie ◽  
Han Brunner ◽  
Bé Wieringa ◽  
Pieter de Jong ◽  
...  
Keyword(s):  
Genetic Mapping ◽  
Myotonic Dystrophy ◽  
Close Linkage ◽  
Chromosome 19

Localization of Cloned Unique DNA to Three Different Regions of Chromosome 19: Screen for Linkage Probes for Myotonic Dystrophy

1985 ◽  
Vol 2 (6) ◽  
pp. 403-412 ◽  
Author(s):  
L. H. Yamaoka ◽  
R. J. Bartlett ◽  
D. A. Ross ◽  
G. H. Fey ◽  
D. H. Ledbetter ◽  
...  
Keyword(s):  
Myotonic Dystrophy ◽  
Chromosome 19

A chromosome 19 clone from a translocation breakpoint shows close linkage and linkage disequilibrium with myotonic dystrophy

Genomics ◽  
1989 ◽  
Vol 4 (2) ◽  
pp. 146-151 ◽  
Author(s):  
R.G. Korneluk ◽  
H.L. MacLeod ◽  
T.W. McKeithan ◽  
J.D. Brooks ◽  
A.E. MacKenzie
Keyword(s):  
Linkage Disequilibrium ◽  
Myotonic Dystrophy ◽  
Translocation Breakpoint ◽  
Close Linkage ◽  
Chromosome 19

scholarly journals Myotonic Dystrophy: Linkage with Apolipoprotein E and Estimation of the Gene Carrier Status with Genetic Markers

1989 ◽  
Vol 16 (1) ◽  
pp. 134-140 ◽  
Author(s):  
Marie-Christine Thibault ◽  
Jean Mathieu ◽  
Sital Moorjani ◽  
André Lescault ◽  
Claude Prévost ◽  
...  
Keyword(s):  
Apolipoprotein E ◽  
Myotonic Dystrophy ◽  
Genetic Markers ◽  
Disease Gene ◽  
Recombination Fraction ◽  
Gene Carrier ◽  
Carrier Status ◽  
Chromosome 19 ◽  
Lod Score ◽  
Asymptomatic Individuals

ABSTRACT:The genes for myotonic dystrophy (MD) and for apolipoprotein E (ApoE) belong to a chromosome 19 synthenic group of markers. A familial linkage analysis between MD and ApoE was performed using the J Ott LIPED program (IBM PC/XT, April 1984) to estimate the genetic distance between these 2 genes. Of a total of 136 individuals in 11 MD families, 81 were confirmed to be affected by the disease and 41 were asymptomatic. ApoE phenotypes were determined in 115 of these 122 individuals. No recombinant was observed out of 74 meioses which were informatives for both MD and the ApoE isoproteins. A global maximal lod score Z of 19.00 was obtained at the recombination fraction Θ = Θ. The upper 0 value at the confidence interval corresponding to the peak lod score (Z max) - 1 was 0.03. This suggests that the loci for MD and ApoE are at a distance of 0 to 0.03 Morgan. Since ApoE and apolipoprotein C2 (ApoC2) have been shown by others to be about 40 kb apart, our data are therefore consistent with the distance estimate of 0.02 Morgan reported between MD and ApoC2. The D19S19 (LDR152) polymorphic DNA sequence is also tightly linked to MD on chromosome 19. The segregation of ApoE isoproteins and of ApoC2 and D19S19 DNA polymorphism was utilized for evaluating the probability for individuals at risk of inheriting the disease gene in MD families. Data are presented on 3 families to emphasize the usefulness of genetic markers to estimate the MD gene carrier status of asymptomatic individuals and also for those presenting a partial syndrome. The limitations of such approach are also discussed.

A reordering of human chromosome 19 long-arm DNA markers and identification of markers flanking the myotonic dystrophy locus

Genomics ◽  
1989 ◽  
Vol 5 (3) ◽  
pp. 596-604 ◽  
Author(s):  
R.G. Korneluk ◽  
A.E. MacKenzie ◽  
Y. Nakamura ◽  
I. Dubé ◽  
P. Jacob ◽  
...  
Keyword(s):  
Human Chromosome ◽  
Myotonic Dystrophy ◽  
Dna Markers ◽  
Chromosome 19 ◽  
Human Chromosome 19

scholarly journals Linkage analysis of myotonic dystrophy and sequences on chromosome 19 using a cloned complement 3 gene probe.

1983 ◽  
Vol 20 (4) ◽  
pp. 259-263 ◽  
Author(s):  
K E Davies ◽  
J Jackson ◽  
R Williamson ◽  
P S Harper ◽  
S Ball ◽  
...  
Keyword(s):  
Linkage Analysis ◽  
Myotonic Dystrophy ◽  
Gene Probe ◽  
Chromosome 19 ◽  
Complement 3

scholarly journals Myotonic Dystrophy in Quebec: Geographical Distribution and Concept of Genetic Homogeneity

1989 ◽  
Vol 16 (1) ◽  
pp. 123-128 ◽  
Author(s):  
Claude Laberge
Keyword(s):  
Myotonic Dystrophy ◽  
Geographical Distribution ◽  
Genetic Homogeneity ◽  
Quebec City ◽  
Chromosome 19 ◽  
North Shore ◽  
South Shore ◽  
Apoe Locus ◽  
Low Prevalence ◽  
In Cis

ABSTRACT: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 Quebec City and to Montreal. 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 Quebec 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 allellic 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 e4 allelle while non-MD members of these families show allellic frequencies not differing significantly from the control population. This suggests that the gene that is carried by all MD patients (at least in Northeast Québec) came through a “founder effect” and was carried in -cis on the chromosome 19 of the first carrier. Consequences of this genie homogeneity in relation to studies of penetrance and phenotypic variation in clinical expressivity are discussed.

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