Prenatal diagnosis of Duchenne muscular dystrophy: prospective linkage analysis and retrospective dystrophin cDNA analysis

Ward, P. A., Hejtmancik, J. F., Witkowski, J. A., Baumbach, L. L., Gunnell, S., Speer, J., Hawley, P., Tantravahi, U., Caskey, C. T. (February 1989) Prenatal diagnosis of Duchenne muscular dystrophy: prospective linkage analysis and retrospective dystrophin cDNA analysis. American Journal of Human Genetics, 44 (2). pp. 270-81. ISSN 0002-9297 (Print)0002-9297

URL: http://www.ncbi.nlm.nih.gov/pubmed/2643315

Abstract

The accuracy of DNA-based prenatal diagnosis of Duchenne muscular dystrophy (DMD) was determined by study of 174 families. Only 60% of families had a living affected male, and 63% had history of a single affected male. Prenatal diagnosis was declined by 47% of mothers whose DNA studies predicted a carrier risk below 2%, and none have had affected sons. Fetal risk was estimated prospectively by linkage analysis using intragenic and flanking RFLPs and retrospectively using dystrophin cDNA analysis for families whose linkage estimates lacked precision. Diagnostic accuracy was determined by comparing predictions with 40 male pregnancy outcomes. On the basis of linkage analysis, we anticipated 3.2 DMD males and observed 3.0. Retrospective cDNA analysis identified deletions in 2 of these 3 males. The combined use of linkage and cDNA deletion analysis provided a highly accurate method for prenatal diagnosis of DMD.

Item Type: Paper
Uncontrolled Keywords: DNA/*genetics DNA Probes Dystrophin Female Fetal Diseases/diagnosis *Genetic Linkage Heterozygote Detection Humans Male Muscle Proteins/*genetics Muscular Dystrophies/*diagnosis/genetics Pedigree Pregnancy Pregnancy Outcome *Prenatal Diagnosis Risk Factors
Subjects: bioinformatics > genomics and proteomics > genetics & nucleic acid processing > DNA, RNA structure, function, modification > cDNA
diseases & disorders > congenital hereditary genetic diseases > muscular dystrophy
CSHL Authors:
Communities: Banbury Center
Depositing User: Matt Covey
Date: February 1989
Date Deposited: 13 Nov 2014 15:45
Last Modified: 13 Nov 2014 15:45
PMCID: PMC1715396
URI: http://repository.cshl.edu/id/eprint/30427

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