Literature DB >> 2037285

Localisation of the myotonic dystrophy locus to 19q13.2-19q13.3 and its relationship to twelve polymorphic loci on 19q.

H G Harley1, K V Walsh, S Rundle, J D Brook, M Sarfarazi, M C Koch, J L Floyd, P S Harper, D J Shaw.   

Abstract

The order of fourteen polymorphic markers localised to the long arm of human chromosome 19 has been established by multipoint mapping in a set of 40 CEPH (Centre d'Etude de Polymorphisme Humain, Paris) reference families. We report here the linkage relationship of the myotonic dystrophy (DM) locus to twelve of these markers as studied in 45 families with DM. The resulting genetic map is supported by the localisation of the DNA markers in a panel of somatic cell hybrids. Ten of the twelve markers have been shown to be proximal to the DM gene and two, PRKCG and D19S22, distal but at distances of approximately 25 cM and 15 cM, respectively. The closest proximal markers are APOC2 (apolipoprotein C-II) and CKM (creatine kinase, muscle) approximately 3 cM and 2 cM from the DM gene respectively, in the order APOC2-CKM-DM. The distance between APOC2, CKM and DM (of the order of 2 million base pairs) and their known orientation should permit directional chromosome walking and jumping. The data presented here should enable us to determine whether or not new markers are distal to APOC2/CKM and thus potentially flank the DM gene.

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Year:  1991        PMID: 2037285     DOI: 10.1007/bf01213096

Source DB:  PubMed          Journal:  Hum Genet        ISSN: 0340-6717            Impact factor:   4.132


  39 in total

1.  The physical map of chromosome arm 19q: some new assignments, confirmations and re-assessments.

Authors:  J D Brook; S J Knight; S H Roberts; H G Harley; K V Walsh; S A Rundle; K Freyne; M C Koch; N D Epstein; B Wieringa
Journal:  Hum Genet       Date:  1991-05       Impact factor: 4.132

2.  Long-range restriction map of a region of human chromosome 19 containing the apolipoprotein genes, a CLL-associated translocation breakpoint, and two polymorphic MluI sites.

Authors:  D J Shaw; H G Harley; J D Brook; T W McKeithan
Journal:  Hum Genet       Date:  1989-08       Impact factor: 4.132

3.  Mapping genetic markers on human chromosome 19 using subchromosomal fragments in somatic cell hybrids.

Authors:  J D Brook; D J Shaw; N S Thomas; A L Meredith; J Cowell; P S Harper
Journal:  Cytogenet Cell Genet       Date:  1986

4.  Detection of heterozygotes for myotonic dystrophy.

Authors:  S Bundey
Journal:  Clin Genet       Date:  1974       Impact factor: 4.438

5.  A technique for radiolabeling DNA restriction endonuclease fragments to high specific activity.

Authors:  A P Feinberg; B Vogelstein
Journal:  Anal Biochem       Date:  1983-07-01       Impact factor: 3.365

6.  Assignment of the structural gene for the third component of human complement to chromosome 19.

Authors:  A S Whitehead; E Solomon; S Chambers; W F Bodmer; S Povey; G Fey
Journal:  Proc Natl Acad Sci U S A       Date:  1982-08       Impact factor: 11.205

7.  Localisation of genetic markers and orientation of the linkage group on chromosome 19.

Authors:  J D Brook; D J Shaw; L Meredith; G A Bruns; P S Harper
Journal:  Hum Genet       Date:  1984       Impact factor: 4.132

8.  Phosphorylation of component a of the human erythrocyte membrane in myotonic muscular dystrophy.

Authors:  A D Roses; S H Appel
Journal:  J Membr Biol       Date:  1975       Impact factor: 1.843

9.  Myotonic dystrophy is closely linked to the gene for muscle-type creatine kinase (CKMM).

Authors:  H G Brunner; R G Korneluk; M Coerwinkel-Driessen; A MacKenzie; H Smeets; H M Lambermon; B A van Oost; B Wieringa; H H Ropers
Journal:  Hum Genet       Date:  1989-03       Impact factor: 4.132

10.  Protein kinase activity in erythrocyte ghosts of patients with myotonic muscular dystrophy.

Authors:  A D Roses; S H Appel
Journal:  Proc Natl Acad Sci U S A       Date:  1973-06       Impact factor: 11.205

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  10 in total

Review 1.  Molecular biology of neurological diseases.

Authors:  W J Cumming
Journal:  Postgrad Med J       Date:  1992-04       Impact factor: 2.401

2.  The physical map of chromosome arm 19q: some new assignments, confirmations and re-assessments.

Authors:  J D Brook; S J Knight; S H Roberts; H G Harley; K V Walsh; S A Rundle; K Freyne; M C Koch; N D Epstein; B Wieringa
Journal:  Hum Genet       Date:  1991-05       Impact factor: 4.132

3.  An informative panel of somatic cell hybrids for physical mapping on human chromosome 19q.

Authors:  L L Bachinski; R Krahe; B F White; B Wieringa; D Shaw; R Korneluk; L H Thompson; K Johnson; M J Siciliano
Journal:  Am J Hum Genet       Date:  1993-02       Impact factor: 11.025

4.  The 1.5-Mb region spanning the myotonic dystrophy locus shows uniform recombination frequency.

Authors:  G G Shutler; A E MacKenzie; R G Korneluk
Journal:  Am J Hum Genet       Date:  1994-01       Impact factor: 11.025

5.  Absence of myotonic dystrophy in southern African Negroids is associated with a significantly lower number of CTG trinucleotide repeats.

Authors:  A Goldman; M Ramsay; T Jenkins
Journal:  J Med Genet       Date:  1994-01       Impact factor: 6.318

6.  Presymptomatic diagnosis of myotonic dystrophy.

Authors:  H G Brunner; W Nillesen; B A van Oost; G Jansen; B Wieringa; H H Ropers; H J Smeets
Journal:  J Med Genet       Date:  1992-11       Impact factor: 6.318

7.  Comparison of the myotonic dystrophy associated CTG repeat in European and Japanese populations.

Authors:  J Davies; H Yamagata; P Shelbourne; J Buxton; T Ogihara; P Nokelainen; M Nakagawa; R Williamson; K Johnson; T Miki
Journal:  J Med Genet       Date:  1992-11       Impact factor: 6.318

8.  A common gene for juvenile and adult-onset primary open-angle glaucomas confined on chromosome 1q.

Authors:  J Morissette; G Côté; J L Anctil; M Plante; M Amyot; E Héon; G E Trope; J Weissenbach; V Raymond
Journal:  Am J Hum Genet       Date:  1995-06       Impact factor: 11.025

9.  Bioactive Aliphatic Polycarbonates Carrying Guanidinium Functions: An Innovative Approach for Myotonic Dystrophy Type 1 Therapy.

Authors:  Alexandra Baroni; Ioan Neaga; Nicolas Delbosc; Mathilde Wells; Laetitia Verdy; Eugénie Ansseau; Jean Jacques Vanden Eynde; Alexandra Belayew; Ede Bodoki; Radu Oprean; Stéphanie Hambye; Bertrand Blankert
Journal:  ACS Omega       Date:  2019-10-21

10.  Pattern dystrophy of the macula in a case of steinert disease.

Authors:  Filipe Esteves; Rosa Dolz-Marco; Pablo Hernández-Martínez; Manuel Díaz-Llopis; Roberto Gallego-Pinazo
Journal:  Case Rep Ophthalmol       Date:  2013-09-21
  10 in total

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