Abstract
Carrier detection in Duchenne dystrophy (DD) remains unsatisfactory since serum creatine kinase (CK) and pyruvate kinase (PK), the best available methods, can detect only 45% of obligate carriers (Muscle Nerve Jan 1985). Restriction fragment length polymorphisms (RFLPs) flanking the DD locus on the X-chromosome have been defined (Murray J et al, Nature 300:69, 1982; Davies K et al, Nucleic Acids Res 11:2303, 1983). Thus the use of RFLPs for estimating probability of carrier status has become possible.
We have examined 71 families to determine the extent to which RFLP linkage studies could improve carrier detection above that possible with triplicate, age-corrected CK and PK analyses. The X chromosome genomic probes pL1.28 and λRC8 have been used in 21 families, including 38 obligate carriers. Probe L1.28 is informative in ∼50% of families and probe λRC8 in ∼20%. Although recombination occurs in ∼15% of matings for pL1.28 and for λRC8, in selected informative families RFLP linkage data has clarified carrier status. Additional X-chromosome probes (p99-6, p58-1, p12; pB24-Kunkel; p754, p782-Pearson, and others) are being tested for informativeness for DD linkage analyses. These studies require the evaluation of multiple members of a family but provide more definitive carrier detection than CK-PK assays alone. (Supported in part by the Muscular Dystrophy Association).
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Doherty, R., Griggs, R., Mendell, J. et al. 816 USE OF GENETIC LINKAGE COMBINED WITH SERUM CREATINE KINASE AND PYRUVATE KINASE FOR CARRIER DETECTION IN DUCHENNE DYSTROPHY. Pediatr Res 19, 246 (1985). https://doi.org/10.1203/00006450-198504000-00846
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DOI: https://doi.org/10.1203/00006450-198504000-00846