Literature DB >> 2300239

Tight linkage of creatine kinase (CKMM) to myotonic dystrophy on chromosome 19.

L H Yamaoka1, M A Pericak-Vance, M C Speer, P C Gaskell, J Stajich, C Haynes, W Y Hung, C Laberge, M C Thibault, J Mathieu.   

Abstract

The myotonic dystrophy (DM) gene is localized to the proximal long arm of chromosome 19. There have been reports of tight linkage to a number of chromosome 19 markers, including APOC2 and creatine kinase muscle type (CKMM), but they did not establish orientation of the 2 markers to DM. We screened several large multi-generational DM families for linkage to a series of chromosome 19 markers including CKMM. CKMM is tightly linked to DM in these data with z(theta) = 28.41; theta = 0.01. Analysis of cross-over data indicates CKMM is on the same side and closer to DM than APOC2. Thus, CKMM is a useful probe for carrier detection studies in presymptomatic individuals as well as for prenatal diagnosis.

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Year:  1990        PMID: 2300239     DOI: 10.1212/wnl.40.2.222

Source DB:  PubMed          Journal:  Neurology        ISSN: 0028-3878            Impact factor:   9.910


  7 in total

1.  Linkage studies in familial Alzheimer disease: evidence for chromosome 19 linkage.

Authors:  M A Pericak-Vance; J L Bebout; P C Gaskell; L H Yamaoka; W Y Hung; M J Alberts; A P Walker; R J Bartlett; C A Haynes; K A Welsh
Journal:  Am J Hum Genet       Date:  1991-06       Impact factor: 11.025

2.  Anatomy of a founder effect: myotonic dystrophy in Northeastern Quebec.

Authors:  Vania Yotova; Damian Labuda; Ewa Zietkiewicz; Dominik Gehl; Alan Lovell; Jean-François Lefebvre; Stéphane Bourgeois; Emilie Lemieux-Blanchard; Marcin Labuda; Hélène Vézina; Louis Houde; Marc Tremblay; Bruno Toupance; Evelyne Heyer; Thomas J Hudson; Claude Laberge
Journal:  Hum Genet       Date:  2005-05-10       Impact factor: 4.132

3.  Defining DNA diagnostic tests appropriate or standard clinical care.

Authors:  R V Lebo; G Cunningham; M J Simons; L J Shapiro
Journal:  Am J Hum Genet       Date:  1990-09       Impact factor: 11.025

4.  Confirmation of genetic heterogeneity in limb-girdle muscular dystrophy: linkage of an autosomal dominant form to chromosome 5q.

Authors:  M C Speer; L H Yamaoka; J H Gilchrist; C P Gaskell; J M Stajich; J M Vance; A Kazantsev; A A Lastra; C S Haynes; J S Beckmann
Journal:  Am J Hum Genet       Date:  1992-06       Impact factor: 11.025

5.  3' creatine kinase (M-type) polymorphisms linked to myotonic dystrophy in Italian and Spanish populations.

Authors:  M Gennarelli; G Novelli; A Cobo; M Baiget; B Dallapiccola
Journal:  Hum Genet       Date:  1991-10       Impact factor: 4.132

6.  A TaqI map of the dystrophin gene useful for deletion and carrier status analysis.

Authors:  A P Walker; N G Laing; T Yamada; D C Chandler; B A Kakulas; R J Bartlett
Journal:  J Med Genet       Date:  1992-01       Impact factor: 6.318

7.  Evidence for locus heterogeneity in autosomal dominant limb-girdle muscular dystrophy.

Authors:  M C Speer; J M Gilchrist; J G Chutkow; R McMichael; C A Westbrook; J M Stajich; E M Jorgenson; P C Gaskell; B L Rosi; R Ramesar
Journal:  Am J Hum Genet       Date:  1995-12       Impact factor: 11.025

  7 in total

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