Improved detection of Duchenne muscular dystrophy heterozygotes using discriminant analysis of creatine kinase levels
โ Scribed by Muir, W. A. ;Knoke, J. ;Martin, A. ;Vignos, P. ;McErlean, A. ;Opitz, John M.
- Publisher
- John Wiley and Sons
- Year
- 1983
- Tongue
- English
- Weight
- 534 KB
- Volume
- 14
- Category
- Article
- ISSN
- 0148-7299
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โฆ Synopsis
We have assessed the sensitivity and specificity of tests to detect carriers of Duchenne muscular dystrophy by use of three serum enzymes (creatine kinase, pyruvate kinase, and aldolase) and discriminant analysis in 21 obligate heterozygotes and 28 normal controls. We found no significant age effects on enzyme levels. Each enzyme level considered separately was significantly higher in heterozygotes. Use of logs improved discrimination, and log CK was sufficient by itself as a discriminant (that is, addition of other enzymes did not significantly improve discrimination). We present procedures to generate posteriori probabilities for genetic counselling tbat incorporate prior probabilities and enzyme levels. Our results show both improved sensitivity (90%) and specificity (86%).
๐ SIMILAR VOLUMES
## Abstract In the absence of an unambiguous test for identifying Duchenne muscular dystrophy (DMD) heterozygotes, methods are needed for combination of the results of individually equivocal tests as effectively and rationally as possible. We used logistic discrimination to assess the effectiveness
Carbonic anhydrase III (CAIII) and creatine kinase (CK) were measured in plasma samples from a series of females at-risk as carriers of Duchenne muscular dystrophy and compared with control groups. Both plasma CAIII and CK levels were raised in a proportion of carriers. Although measurement of CAIII