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PMID: 3457554 Published · ppublish English Journal Article Research Support, Non-U.S. Gov't

The use of flanking markers in prediction for Duchenne muscular dystrophy.

Archives of disease in childhood ·Vol. 61 ·No. 3 ·1986-03-00 ·Pages 218-22

Williams H, Sarfarazi M, Brown C, Thomas N, Harper PS

Abstract

Seventy three sisters of boys with Duchenne muscular dystrophy and their families were studied using up to seven deoxyribonucleic acid (DNA) probes linked to the gene on the short arm of the X chromosome. Fifty three (73%) were informative for flanking markers, a further 18 (24%) being informative for a single marker only. Predictions based on pedigree structure and creatine kinase information from the individuals and their female relatives gave more than half (55%) of the sisters a risk for being a carrier of below 10% or above 90%. The addition of information derived from the inheritance of flanking DNA markers, where they exist, improves the situation so that many more sisters (77%) can be allocated into either high or low risk categories.

MeSH Terms
Adolescent Adult Creatine Kinase/blood DNA, Recombinant Female Genetic Carrier Screening/methods Genetic Markers Humans Male Muscular Dystrophies/blood,diagnosis,genetics Risk
Chemicals
DNA, Recombinant Genetic Markers Creatine Kinase
Authors & Affiliations
5 authors, click to expand affiliations / ORCID
Williams H
Sarfarazi M
Brown C
Thomas N
Harper P S
References (5)
5 references, click to expand
  1. PEDIG--a computer program for calculation of genotype probabilities using phenotype information.
    Clin Genet. 1972;3(6):501-4 PMID: 4650869
  2. Detection of deletions spanning the Duchenne muscular dystrophy locus using a tightly linked DNA segment.
    Nature. 1985 Aug 29-Sep 4;316(6031):842-5 PMID: 2993910
  3. Calculation of genetic risks in Duchenne muscular dystrophy by geneticists in the United Kingdom.
    J Med Genet. 1978 Aug;15(4):249-53 PMID: 712756
  4. Genetic linkage relationships of seven DNA probes with Duchenne and Becker muscular dystrophy.
    Hum Genet. 1985;71(1):62-74 PMID: 2993158
  5. Carrier detection in Duchenne muscular dystrophy. Evidence from a study of obligatory carriers and mothers of isolated cases.
    Arch Dis Child. 1979 Jul;54(7):534-7 PMID: 485196
Article Info
Journal
Archives of disease in childhood
Abbr.
Arch Dis Child
ISSN
1468-2044
Published
1986-03-00
Pages
218-22
Language
English
Region
England
NLM ID
0372434
PMCID
PMC1777718
Subset
IM
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