title: Detection of carriers of X-linked gene for Duchenne muscular dystrophy by levels of creatine kinase and pyruvate kinase.
abstract: Creatine kinase (CK) is the enzyme most often utilized for the detection of carriers of the gene for X-linked muscular dystrophies. In 1974, pyruvate kinase (PK) levels were also found to be increased in these carriers. The objective of the present study, carried out on 77 women related to patients with Duchenne muscular dystrophy (DMD), was to compare the efficiency of the two enzymes in the detection process. Of the 11 obligate heterozygotes for the DMD gene in the group, 8 exhibited elevated mean CK levels, 6 had elevated mean PK levels, and 9 had elevated mean levels of at least one of the enzymes. Among the mothers of isolated patients, 2/13 had elevated mean CK levels, 3/13 had elevated mean PK levels, and 5/13 had elevated mean levels of at least one of these enzymes. Thus, the study confirms data obtained by other investigators indicating that the use of PK can increase the detection rate of carriers of the gene for X-linked muscular dystrophies.
mesh_terms: D004796:Clinical Enzyme Tests; D003402:Creatine Kinase / Q000097:blood*; D005260:Female; D006580:Genetic Carrier Screening; D008040:Genetic Linkage; D006801:Humans; D009136:Muscular Dystrophies / Q000175:diagnosis / Q000235:genetics*; D011770:Pyruvate Kinase / Q000097:blood*; D014960:X Chromosome
chemical_list: D011770:Pyruvate Kinase; D003402:Creatine Kinase