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Detection of carriers of duchenne muscular dystrophy gene using logistic discriminating analysis: creatine-kinase and pyruvate-kinase^*

Márcia M. Gonçalves Pimentel^I; Daisy N. Falcão-Conceição^I; Dirley Moreira dos Santos^II

^IDepartamento de Genética, Instituto de Biologia, Universidade Federal do Rio de Janeiro, Ilha do Fundão, 21941 Rio de Janeiro, RJ, Brasil. Send correspondence to D.N.F..-C.
^IIDepartamento de Estatística, Universidade Federal Fluminense, Niterói, RJ, Brasil

ABSTRACT

Creatine-kinase (CK) and pyruvate-kinase (PK) activities were measured in 160 serum samples: 87 from 38 normal women and 73 from 30 proven carriers of the Duchenne muscular dystrophy gene (DMD), aged 19 to 54 years. All CK and PK determinations were performed on aliquots from the same serum sample.
Logistic discriminating analysis was used to determine the efficacy of each enzyme alone or of the two in combination in detecting carriers of the DMD gene. In this approach, to a serum sample with a given level of CK or PK separately or in combination is attributed a probability that, if taken at random from a pool of sera from control and carrier women, it comes from a carrier.
CK and PK each used alone showed a detection efficiency of 73 and 37% respectively. When the two enzymes were used in combination, the efficacy was also 73%, thus showing that CK and PK combination does not improve detection in relation to CK used alone.
When the two tests were applied to 28 mothers of isolated cases, 13 were detected by CK alone, and were the same 13 women as detected by CK and PK combined. PK alone detected 4 mothers of isolated cases, only two of whom had been detected by CK and PK combined.

Keywords: duchenne muscular dystrophy; gene; logistic; discriminating; creatine-kinase; pyruvate-kinase.

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* Part of_. a Doctoral Thesis presented by M.M.G.P. to the Department of Genetics, Universidade Federal do Rio de Janeiro, RJ