title: Estimates of conditional heterozygosity risks for young females in Duchenne muscular dystrophy.
abstract: Using the data from daughters of known carriers and from age-paired controls, we present a method for estimating the mean and variance of creatine kinase (CK) and pyruvate kinase (PK) in pre-menarchal and early adolescent Duchenne muscular dystrophy (DMD) carriers. CK and PK means and variances were estimated for different age ranges; it is shown that among DMD carriers the levels of both enzymes decrease linearly with age. A discriminant analysis was further performed for the estimation of biochemical risks favouring the diagnosis of heterozygosity for possible young carriers. The use of this method may also be applicable for other X-linked conditions in which the detection of heterozygotes is probabilistic.
authors.affiliation: Departamento de Biologia, Universidade de São Paulo, Brazil.
authors.forename: M R
authors.initials: MR
authors.lastname: Passos-Bueno
authors.forename: P A
authors.initials: PA
authors.lastname: Otto
authors.forename: M
authors.initials: M
authors.lastname: Zata
mesh_terms: D000293:Adolescent; D000328:Adult; D000367:Age Factors; D000375:Aging / Q000097:blood*; D002648:Child; D002675:Child, Preschool; D003402:Creatine Kinase / Q000235:genetics*; D005260:Female; D006580:Genetic Carrier Screening / Q000379:methods*; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D009136:Muscular Dystrophies / Q000201:enzymology / Q000235:genetics*; D011770:Pyruvate Kinase / Q000235:genetics*; D012307:Risk Factors
chemical_list: D011770:Pyruvate Kinase; D003402:Creatine Kinase