PubMed · 890926
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J S Lo. 1977. Simple pattern-recognition format for laboratory tests.. https://pubmed.ncbi.nlm.nih.gov/890926/
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The performance of dry chemistry analysis systems was evaluated using the results obtained from proficiency testing 1991 of practitioner's laboratories. 59% of the participants use dry chemistry (Ektachem DT 60 Kodak, Reflotron Boehringer, Cobas Ready Roche). The evaluation reveals the following: The declared values of the control sera for the dry chemistry systems agree well with those of the conventional wet chemistry, excepting enzyme assays. The precision of the dry chemistry parameters is substantially higher than that of the wet chemistry. The overall performance of the dry chemistry analysis systems was found to be superior as compared to the wet chemistry performance. A prerequisite for dry chemistry proficiency testing are control sera of human origin.
Duchenne muscular dystrophy (DMD) results from mutations in the X-linked gene coding for the muscular protein dystrophin. The isolation of genomic and cDNA probes for this gene has greatly facilitated the detection of DMD carriers, which previously relied mainly on measurements of serum creatine kinase (CK), and has enabled prenatal diagnosis of this disease. However, the relatively large size of the gene and the high frequency of recombination and mutation events within the dystrophin locus continue to pose difficulties in the genetic counselling and prenatal diagnosis of DMD, and render the conclusions of molecular analysis less clear cut. This communication presents examples of two such difficulties: the distinction between sporadic and inherited cases in families with a single patient and normal CK levels in all females, and the distinction between mutant and normal dystrophin alleles in families in which the patients have died. The combined use of genomic and cDNA probes allows one to make these distinctions. An additional complicating factor, gonadal mosaicism, is demonstrated.
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