title: Duchenne muscular dystrophy carrier detection using logistic discrimination: serum creatine kinase and hemopexin in combination.
abstract: Creatine kinase (CK) activity and hemopexin concentration were measured in 208 serum samples from 104 normal females and 22 obligate carriers of Duchenne muscular dystrophy (DMD) 20-40 years old. Logistic discrimination was used to assess the effectiveness of the parameters alone or in combination in identifying DMD carriers. In this approach, a serum sample with particular CK, hemopexin, or a combination of CK and hemopexin values is given a probability that if drawn at random from a defined mixture of controls and carriers, it comes from a carrier. The carrier probability based on the biochemical tests can be directly combined with the carrier probability determined from a woman's pedigree to yield a final posterior probability that she is a carrier. When CK and hemopexin were considered individually, 65 and 27% of the carriers, respectively, could be distinguished from 95% of the controls. When the two tests were used in combination, 82% of the carriers could be distinguished from 95% of the controls. When the two-test method was applied to 93 possible carriers, 35 women were classified as carriers, whereas only 29 were identified using CK alone. This method can be extended to include other variables in order to further improve the identification of DMD carriers. It can also be applied to carrier detection in other genetic disorders.
mesh_terms: D000293:Adolescent; D000328:Adult; D002648:Child; D004796:Clinical Enzyme Tests; D019411:Clinical Laboratory Techniques; D003402:Creatine Kinase / Q000097:blood*; D005260:Female; D006580:Genetic Carrier Screening / Q000379:methods; D006466:Hemopexin / Q000032:analysis*; D006801:Humans; D008875:Middle Aged; D009136:Muscular Dystrophies / Q000235:genetics*; D011336:Probability; D012016:Reference Values; D012306:Risk
chemical_list: D006466:Hemopexin; D003402:Creatine Kinase