Italian experience regarding the prevention of Duchenne and Becker muscular dystrophies.

Abstract

The indirect approach to carrier detection and prenatal diagnosis of Duchenne and Becker muscular dystrophies based on the study of DNA polymorphisms closely linked to this gene has been followed by five Italian laboratories in the study of 106 pedigrees. Out of 354 women studied up to 1 May 1987, 147 were identified as carriers because of pedigree information and/or of increased creatine phosphokinase (CPK) values. Of the remaining 207, 184 could be assigned to three arbitrarily defined risk categories (low, intermediate and high) using linkage analysis. This disaggregation of women at risk is clearly more useful than that defined before DNA analysis, in which the same 184 women could be assigned only to the low or intermediate risk categories. Prenatal diagnosis was theoretically possible in 90% of carrier women, and was actually performed in 14 pregnancies, which led to the identification of four affected male foetuses, one also having Down syndrome.

• Authors: G Romeo, M Devoto, N Archidiacono, A Ferlini, L Roncuzzi, M A Melis, E Paderi, M Ferrari, S Tedeschi, G Galluzzi
• Journal: European journal of pediatrics (Eur J Pediatr) Vol. 147 Issue 4 Pg. 412-5 (May 1988) ISSN: 0340-6199 [Print] Germany
• PMID: 3165066 (Publication Type: Journal Article, Research Support, Non-U.S. Gov't)

Chemical References

• Genetic Markers
• DNA
• Creatine Kinase

Topics

• Chromosome Deletion
• Creatine Kinase (genetics)
• DNA (analysis)
• Female
• Genetic Carrier Screening
• Genetic Linkage
• Genetic Markers
• Humans
• Italy
• Male
• Muscular Dystrophies (genetics, prevention & control)
• Mutation
• Nucleic Acid Hybridization
• Pedigree
• Polymorphism, Genetic
• Prenatal Diagnosis
• X Chromosome