Hostname: page-component-586b7cd67f-dlnhk Total loading time: 0 Render date: 2024-12-02T18:03:36.460Z Has data issue: false hasContentIssue false
  • English
  • Français

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

Published online by Cambridge University Press:  18 September 2015

Marie-Christine Thibault ,
Jean Mathieu ,
Sital Moorjani ,
André Lescault ,
Claude Prévost ,
Daniel Gaudet ,
Jean Morissette  and
Claude Laberge
Marie-Christine Thibault*
Affiliation:
CHUL Research Center, Ste-Foy
Jean Mathieu
Affiliation:
Service of Neurology, Chicoutimi Hospital
Sital Moorjani
Affiliation:
CHUL Research Center, Ste-Foy
André Lescault
Affiliation:
Genetic Medicine Québec Network, Laval University Medical Center
Claude Prévost
Affiliation:
Genetic Counselor, Chicoutim
Daniel Gaudet
Affiliation:
CHUL Research Center, Ste-Foy
Jean Morissette
Affiliation:
Genetic Medicine Québec Network, Laval University Medical Center
Claude Laberge
Affiliation:
CHUL Research Center, Ste-Foy Genetic Medicine Québec Network, Laval University Medical Center
*
Ontogénèse et Génétique Moléculaire, Centre Hospitalier de l'Université Laval, 2705 Boul. Laurier, Ste-Foy, Québec, Canada G1V 4G2
Rights & Permissions [Opens in a new window]

Abstract:

Core share and HTML view are not available for this content. However, as you have access to this content, a full PDF is available via the ‘Save PDF’ action button.

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.

Type
SPECIAL SUPPLEMENT Dystrophie myotonique au Québec
Information
Canadian Journal of Neurological Sciences , Volume 16 , Issue 1 , February 1989 , pp. 134 - 140
Copyright
Copyright © Canadian Neurological Sciences Federation 1989

References

REFERENCES

1.Das, HK, McPherson, J, Bruns, GAP, et al. Isolation, characterization and mapping to chromosome 19 of the human apolipoprotein E gene. J Biol Chem 1985; 260: 6240–6247.CrossRefGoogle ScholarPubMed
2.Donald, JA, Wallis, SC, Kessling, A, et al. Linkage relationship of the gene for apolipoprotein CII with loci on chromosome 19. Hum Genet 1985; 69: 39–43.CrossRefGoogle ScholarPubMed
3.Olaisen, B, Teisberg, P, Gedde-Dahl, T Jr. The locus for apolipoprotein E (apoE) is linked to the complement component C3 (C3) locus in chromosome 19 in man. Hum Genet 1982; 62: 233–236.CrossRefGoogle Scholar
4.Scott, J, Knott, TJ, Shaw, DJ, et al. Localization of genes encoding apolipoproteins CI, CII and E to the pl3—cen region of human chromosome 19. Hum Genet 1985; 71: 144–146.CrossRefGoogle Scholar
5.Tata, F, Henry, I, Markham, AF, et al. Isolation and characterization of a cDNA clone for human apoliprotein CI and assignment of the gene to chromosome 19. Hum Genet 1985; 69: 345–349.CrossRefGoogle Scholar
6.Pericak-Vance, MA, Yamaoka, LH, Assinder, RIF, et al. Tight linkage of apolipoprotein C2 to myotonic dystrophy on chromosome 19. Neurology 1986; 36: 1418–1423.CrossRefGoogle ScholarPubMed
7.Bartlett, RJ, Pericak-Vance, MA, Yamaoka, LH, et al. A new probe for the diagnosis of myotonic muscular dystrophy. Science 1987; 235: 1648–1650.CrossRefGoogle ScholarPubMed
8.Smit, M, van der Kooij-Meijs, E, Frants, RR, et al. Apolipoprotein gene cluster on chromosome 19. Hum Genet 1988; 78: 90–93.CrossRefGoogle ScholarPubMed
9.Veillette, S, Perron, M, Desbiens, F. La dystrophie myotonique: étude épidémiologique et socio-géographique au Saguenay–Lac–Saint–Jean. CEGEP de Jonquière 1986.Google Scholar
10.Laberge, C. Myotonic dystrophy in Quebec: geographic distribution and notions of genetic homogeneity. Can J Neur Sci 1989; this issue.CrossRefGoogle Scholar
11.Moorjani, S, Gaudet, D, Laberge, C, et al. Hypertriglyceridemia and lower LDL cholesterol concentration in relation to apolipoprotein E phenotypes in myotonic dystrophy. Can J Neur Sci 1989, this issue.CrossRefGoogle ScholarPubMed
12.Reed, KC, Mann, DA. Rapid transfer of DNA from agarose gels to nylon membranes.Nucl Ac Res 1985; 13: 7207–7221.CrossRefGoogle ScholarPubMed
13.Myklebost, O, Williamson, B, Markham, AF, et al. The isolation and characterization of cDNA clones for human apolipoprotein CII. J Biol Chem 1984; 259: 4401–4404.CrossRefGoogle ScholarPubMed
14.Wallis, SC, Donald, JA, Forrest, LA, et al. The isolation of a genomic clone containing the apolipoprotein CII gene and the detection of linkage disequilibrium between two common DNA polymorphisms around the gene. Hum Genet 1984; 68: 286–289.CrossRefGoogle ScholarPubMed
15.Maniatis, T, Fritsch, EF, Samsbrook, J. Molecular cloning. Cold Spring Harbor Laboratory 1982.Google Scholar
16.Silhavy, TJ, Berman, ML, Enquist, LW. Experiments with gene fusions. Cold Spring Harbor Laboratory 1984; 164.Google Scholar
17.Feinberg, AP, Vogelstein, B. A technique for radiolabelling DNA restriction endonuclease fragments to high specific activity. Anal Biochem 1983; 132: 6–13.CrossRefGoogle ScholarPubMed
18.Conneally, PM, Edwards, JH, Kidd, KK, et al. Report of the committee on methods of linkage analysis and reporting. Cytogenet Cell Genet 1985; 40: 356–359.CrossRefGoogle Scholar
19.Bouchard, JP. La variabilité du phénotype dans la dystrophie myotonique de Steinert. J Can Sci Neur 1989, this issue.CrossRefGoogle ScholarPubMed
20.Mathieu, J, Simard, M, DeBraekeleer, M, et al. Partial syndrome of myotonic dystrophy: clinical presentation and follow-up. Can J Neur Sci 1989, this issue.CrossRefGoogle ScholarPubMed
21.Paris, G, Laframboise, R, Bouchard, J-pLa mère et l’enfant atteints de dystrophie myotonique de Steinert. J Can Sci Neur 1989, this issue.CrossRefGoogle Scholar
22.Shaw, DJ, Meredith, AL, Sarfarazi, M, et al. The apolipoprotein CU gene: sub-chromosomal localisation and linkage to the myotonic dystrophy locus. Hum Genet 1985; 70: 271–273.CrossRefGoogle Scholar
23.Lunt, PW, Meredith, AL, Harper, PS. First-trimester prediction in fetus at risk for myotonic dystrophy. The Lancet 1986; 9: 350–351.CrossRefGoogle Scholar
24.Meredith, AL, Huson, SM, Lunt, PW, et al. Application of a closely linked polymorphism of restriction fragment length to counselling and prenatal testing in families with myotonic dystrophy. Brit Med J 1986; 293: 1353–1356.CrossRefGoogle ScholarPubMed
25.Bird, TD, Boehnke, M, Schellenberg, GD, et al. The use of apolipoprotein CII as a genetic marker for myotonic dystrophy. Arch Neurol 1987; 44: 273–275.CrossRefGoogle ScholarPubMed
26.Haan, EA, Mulley, JC, Gedeon, AK, et al. Presymptomatic testing for myotonic dystrophy using the linked DNA marker APOC2. Austr Paediat J 1988; 24: 95.Google Scholar
27.Bartlett, RJ, Lee, JE, Gilbert, JR, et al. Candidate gene analysis in myotonic dystrophy. 3e colloque international sur les maladies neuromusculaires. AFM telethon, Bordeaux, France, 27 juin-11 juillet, 1988.Google Scholar
28.Old, JM, Heath, C, Fitches, A, et al. Meiotic recombination between two polymorphic restriction sites within the β-globin gene cluster. J Med Genet 1986; 23:14–18.CrossRefGoogle ScholarPubMed