Linkage analysis of peripheral neurofibromatosis (Von Recklinghausen disease) and chromosome 19 markers linked to myotonic dystrophy.

Journal of medical genetics ·Vol. 23 ·No. 1 ·1986-02-00 ·Pages 55-7

Huson SM, Meredith AL, Sarfarazi M, Shaw DJ, Compston DA, Harper PS

Abstract

Three chromosome 19 markers known to be linked to myotonic dystrophy have been studied in nine families with peripheral neurofibromatosis (Von Recklinghausen's disease). Clear evidence against linkage has been found for all three markers, excluding the peripheral neurofibromatosis gene from the myotonic dystrophy region of chromosome 19. Previous reports of co-inheritance of the two disorders in families cannot therefore be explained on the basis of close genetic linkage between the loci.

MeSH Terms

Adult Child Chromosomes, Human, 19-20 Female Genetic Linkage Humans Male Myotonic Dystrophy/genetics Neurofibromatosis 1/genetics Polymorphism, Genetic Recombination, Genetic

Authors & Affiliations

6 authors, click to expand affiliations / ORCID

Huson S M

Meredith A L

Sarfarazi M

Shaw D J

Compston D A

Harper P S

References (7)

7 references, click to expand

Estimation of the recombination fraction in human pedigrees: efficient computation of the likelihood for human linkage studies.
Am J Hum Genet. 1974 Sep;26(5):588-97 PMID: 4422075
Neurofibromatosis: variable expression is not intrinsic to the mutant gene.
Birth Defects Orig Artic Ser. 1979;15(5B):283-9 PMID: 118781
Coincidence of neurofibromatosis and myotonic dystrophy in a kindred.
J Med Genet. 1981 Apr;18(2):134-8 PMID: 6787200
Linkage analysis of myotonic dystrophy and sequences on chromosome 19 using a cloned complement 3 gene probe.
J Med Genet. 1983 Aug;20(4):259-63 PMID: 6620325
Neurofibromatosis: clinical heterogeneity.
Curr Probl Cancer. 1982 Aug;7(2):1-34 PMID: 6816509
Genetic linkage between the loci for myotonic dystrophy and peptidase D.
Ann Hum Genet. 1983 May;47(Pt 2):117-21 PMID: 6881909
Von Recklinghausen neurofibromatosis.
N Engl J Med. 1981 Dec 31;305(27):1617-27 PMID: 6796886

Article Info

Journal

Journal of medical genetics

Abbr.

J Med Genet

ISSN

0022-2593

DOI

10.1136/jmg.23.1.55

Published

1986-02-00

Pages

55-7

Language

English

Region

England

NLM ID

2985087R

PMCID

PMC1049542

Subset

External Links

PubMed source DOI: 10.1136/jmg.23.1.55 PMC Full Text View journal details

Analysis Services

Linkage analysis of peripheral neurofibromatosis (Von Recklinghausen disease) and chromosome 19 markers linked to myotonic dystrophy.

Contact

WeChat Official Account