Am J Hum Genet. 1991 Jul;49(1):68-75.

Detection of linkage disequilibrium between the myotonic dystrophy locus and a new polymorphic DNA marker.

Harley HG, Brook JD, Floyd J, Rundle SA, Crow S, Walsh KV, Thibault MC, Harper PS, Shaw DJ.

Source

Institute of Medical Genetics, University of Wales College of Medicine, Cardiff, United Kingdom.

Abstract

We have examined the linkage of two new polymorphic DNA markers (D19S62 and D19S63) and a previously unreported polymorphism with an existing DNA marker (ERCC1) to the myotonic dystrophy (DM) locus. In addition, we have used pulsed-field gel electrophoresis to obtain a fine-structure map of this region. The detection of linkage disequilibrium between DM and one of these markers (D19S63) is the first demonstration of this phenomenon in a heterogeneous DM population. The results suggest that at least 58% of DM patients in the British population, as well as those in a French-Canadian subpopulation, are descended from the same ancestral DM mutation. We discuss the implications of this finding in terms of strategies for cloning the DM gene, for a possible role in modification of risk for prenatal and presymptomatic testing, and we speculate on the origin and number of existing mutations which may result in a DM phenotype.

PMID:: 2063878; [PubMed - indexed for MEDLINE]
PMCID:: PMC1683213

Free PMC Article

Publication Types, MeSH Terms, Substances, Grant Support

Publication Types

Research Support, Non-U.S. Gov't

MeSH Terms

Substances

Genetic Markers

Grant Support

Wellcome Trust/United Kingdom

LinkOut - more resources

Full Text Sources

Supplemental Content

Save items

Related citations in PubMed

Linkage disequilibrium detected between myotonic dystrophy and the anonymous marker D19S63 in the Spanish population. [Hum Genet. 1992]
Linkage disequilibrium detected between myotonic dystrophy and the anonymous marker D19S63 in the Spanish population.
Cobo A, Grinberg D, Balcells S, Vilageliu L, Gonzàlez-Duarte R, Baiget M. Hum Genet. 1992 May; 89(3):287-91.
Identification of new DNA markers close to the myotonic dystrophy locus. [J Med Genet. 1991]
Identification of new DNA markers close to the myotonic dystrophy locus.
Brook JD, Harley HG, Walsh KV, Rundle SA, Siciliano MJ, Harper PS, Shaw DJ. J Med Genet. 1991 Feb; 28(2):84-8.
Linkage disequilibrium detected between dystrophia myotonica and APOC2 locus in the Finnish population. [Hum Genet. 1990]
Linkage disequilibrium detected between dystrophia myotonica and APOC2 locus in the Finnish population.
Nokelainen P, Alanen-Kurki L, Winqvist R, Falck B, Somer H, Leisti J, Johnson K, Savontaus ML, Peltonen L. Hum Genet. 1990 Oct; 85(5):541-5.
Review Advances in myotonic dystrophy: a clinical and genetic perspective. [Curr Opin Neurol Neurosurg. 1992]
Review Advances in myotonic dystrophy: a clinical and genetic perspective.
Reardon W, Harper PS. Curr Opin Neurol Neurosurg. 1992 Oct; 5(5):605-9.
Review [Molecular genetics of myotonic dystrophy]. [Rinsho Shinkeigaku. 1995]
Review [Molecular genetics of myotonic dystrophy].
Miki T, Yamagata H, Ogihara T. Rinsho Shinkeigaku. 1995 Dec; 35(12):1479-81.

See reviews... See all...

Cited by 20 PubMed Central articles

Polymorphisms in cinnamoyl CoA reductase (CCR) are associated with variation in microfibril angle in Eucalyptus spp. [Genetics. 2005]
Polymorphisms in cinnamoyl CoA reductase (CCR) are associated with variation in microfibril angle in Eucalyptus spp.
Thumma BR, Nolan MF, Evans R, Moran GF. Genetics. 2005 Nov; 171(3):1257-65. Epub 2005 Aug 5.
Inferring linkage disequilibrium between a polymorphic marker locus and a trait locus in natural populations. [Genetics. 2000]
Inferring linkage disequilibrium between a polymorphic marker locus and a trait locus in natural populations.
Luo ZW, Tao SH, Zeng ZB. Genetics. 2000 Sep; 156(1):457-67.
Review Myotonic dystrophy: molecular windows on a complex etiology. [Nucleic Acids Res. 1998]
Review Myotonic dystrophy: molecular windows on a complex etiology.
Korade-Mirnics Z, Babitzke P, Hoffman E. Nucleic Acids Res. 1998 Mar 15; 26(6):1363-8.

See all...

Related information

Related Citations
Calculated set of PubMed citations closely related to the selected article(s) retrieved using a word weight algorithm. Related articles are displayed in ranked order from most to least relevant, with the “linked from” citation displayed first.
Gene (OMIM)
Gene records associated with Online Mendelian Inheritance in Man (OMIM) records that cite the current articles in their reference lists.
Nucleotide (Weighted)
Nucleotide records associated with the current articles through the Gene database. These are the related sequences on the Gene record that are added manually by NCBI.
OMIM (calculated)
Online Mendelian Inheritance in Man (OMIM) records that include the current articles as references in the light bulb links within or in the citations at the end of the OMIM record. The references available through the light bulb link are collected using the PubMed related articles algorithm to identify records with similar terminology to the OMIM record.
OMIM (cited)
Online Mendelian Inheritance in Man (OMIM) records that include the current articles as reference cited at the end of the OMIM record.
Protein (Weighted)
Protein records associated with the current articles through related Gene database records. These are the related sequences on the Gene record that are added manually by NCBI.
References for this PMC Article
Citation referenced in PubMed article. Only valid for PubMed citations that are also in PMC.
Free in PMC
Free full text articles in PMC
Cited in PMC
Full-text articles in the PubMed Central Database that cite the current articles.

Recent activity

Clear Turn Off Turn On

Detection of linkage disequilibrium between the myotonic dystrophy locus and a n...
Detection of linkage disequilibrium between the myotonic dystrophy locus and a new polymorphic DNA marker.
Am J Hum Genet. 1991 Jul ;49(1):68-75.

PubMed
A longstanding error by Ernest Henry Starling.
A longstanding error by Ernest Henry Starling.
Resuscitation. 2010 Nov ;81(11):1584; author reply 1584-5. Epub 2010 Jul 17 .

PubMed
Exploring the molecular basis for variability among patients with Becker muscula...
Exploring the molecular basis for variability among patients with Becker muscular dystrophy: dystrophin gene and protein studies.
Am J Hum Genet. 1991 Jul ;49(1):54-67.

PubMed
Randomised comparison of percutaneous left ventricular assist device with open-c...
Randomised comparison of percutaneous left ventricular assist device with open-chest cardiac massage and with surgical assist device during ischaemic cardiac arrest.
Resuscitation. 2010 Nov ;81(11):1566-70. Epub 2010 Jul 17 .

PubMed
Mutation detection in phenylketonuria by using chemical cleavage of mismatch: im...
Mutation detection in phenylketonuria by using chemical cleavage of mismatch: importance of using probes from both normal and patient samples.
Am J Hum Genet. 1991 Jul ;49(1):175-83.

PubMed

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

PubMed

Result Filters

Display Settings:

Send to: