Full text in pdf format

Detection rates for duchenne muscular dystrophy gene carriers using logistic discrimination: creatine-kinase and hemopexint

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

^IDepartamento de Genética, Irístituto 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 hemopexin (H) levels were measured in 117 serum samples, 59 of which were from 34 proven carriers of the Duchenne muscular dystrophy (DMD) gene and 58 from 30 normal adult women.
In view of the characteristics of the two samples to be measured, logistic discriminating analysis was chosen as the best approach to determine the efficacy of each protein alone or of the two in combination in detecting carriers of the DMD gene.
The efficacy of CK alone was 82% and of H alone, 59%, i.e., misclassification of carriers of the DMD gene was 18 and 41%, respectively, for the two proteins used separately. Combination of CK and H showed 88% efficacy, i.e., misclassification of the heterozygous group was reduced from 18 to 12%, but this difference was not statistically significant.

Keywords: duchenne muscular dystrophy; gene; carriers; creatine-kinase; hemopexint.

REFERENCES

Anderson, J.A. (1972). Separate sample logistic discrimination. Biometrika 59: 19-35.

Aston, J.P., Kingston, H.M., Rasamy, I., Walters, E.G. and Stansbie, D. (1984). Plasma pyruvate kinase and creatine kinase activity in Becker muscular dystrophy. J. Neurol. Sci. 65: 307- 314.

Bundey, S. (1981). A genetic study of Duchenne muscular dystrophy in the West Midlands. J. Med. Genet. 18: 1-7.

Cox, D.R. (1970). The linear logistic model. In: The Analysis of Binary Data (Cox, D.R., ed.). Methuen, London, pp. 14-29.

Danieli, G.A. and Angelini, C. (1976a). Duchenne carrier detection. Lancet ií:90.

Danieli, G.A. and Angelini, C. (1976b). Duchenne carrier detection (Letter). Lancet 11:415-416.

Falcão-Conceição, D.N., Gonçalves-Pimentel, M.M., Baptista, M.L. and Ubatuba, S. (1983). Detection of carriers of X-linked gene for Duchenne muscular dystrophy by levels of creatine kinase and pyruvate-kinase. J. Neurol. Sci. 62: 171-180.

Falcão-Conceição, D.N., Gonçalves-Pimentel, M.M. and Santos, D.M. (1986). Logistic discrimination analysis in the detection of heterozygous women for Duchenne muscular dystrophy: CK and PK. Abstract of the VII International Congress of Human Genetics, Berlin, September 22-26, 1986: 720-721.

Gonçalves-Pimentel, M.M. (1987). Cálculos de risco de heterozigose em portadoras possíveis do gene para a distrofia muscular Duchenne. Doctoral Thesis, Instituto de Biologia. Universidade Federal do Rio de Janeiro, RJ.

Kingston, H.M., Sarfarazi, M., Newcombe, R.G., Willis, N. and Harper, P.S. (1985). Carrier detection in Becker muscular dystrophy using creatine kinase estimation and DNA analysis. Clin. Genet. 27: 383-391.

Muir, W.A., Knobe, J., Martin, A., Vignos, P. and McErlean, A. (1983). Improved detection of Duchenne muscular dystrophy heterozygotes using discriminant analysis of creatine kinase levels. Am. J. Med. Genet. 14: 125-134.

Pembrey, M.E., Davies, K.E., Winter, R.M., Elles, R.G., Williamson, R., Fazzone, T.A. and Walker, C. (1984). Clinical use of DNA markers linked to the gene for Duchenne muscular dystrophy. Arch. Dis. Child. 59: 208-216.

Percy, M.E., Andrews, D.F. and Thompson, M.W. (1981). Duchenne muscular dystrophy carrier detection using logistic discrimination: serum creatine kinase and hemopexin in combination. Am. J. Med. Genet. 8: 397-409.

Percy, M.E., Andrews, D.F. and Thompson, M.W. (1982). Duchenne muscular dystrophy carrier detection using logistic discrimination: serum creatine kinase, hemopexin, pyruvate kinase and lactate dehydrogenase in combination. Am. J. Med. Genet: 13:27-38.

Percy, M.E., Pichora, G.A., Chang, L.S., Manchester, K.E. and Andres, D.F. (1984). Serum myoglobin in Duchenne muscular dystrophy carrier detection: a comparison with creatine kinase and hemopexin using logistic discrimination. Am. J. Med. Genet. 18: 279-287.

Rapaport, D., Colleto, G.M.D.D. and Zatz, M. (1986). Estimativa da herdabilidade da atividade das enzimas creatino-quinase (CK), piruvato-quinase (PK) e isocitrato desidrogenase (ICDH): Estudo em gêmeos. Resumos da SBPC, 38: 845-846.

Sibert, J.R., Harper, P.S., Thompson, R.J. and Newcombe, R.G. (1979). Carrier detection in Duchenne muscular dystrophy. Evidence from a study of obligatory carriers and mothers of isolated cases. Arch. Dis. Child. 54:534-537.

Siegel, S. (1975). Estatística Não Paramétrica. McGraw Hill do Brasil, São Paulo, 350 pp. Sigma Technical Bulletin 520 (1976) pp. 1-19.

Soares, J.F. e Bartman, F.C. (1983). Regressão logística - 14° Colóquio Brasileiro de Matemática - Métodos Estatísticos em Medicina e Biologia: 81-113.

Williams, H., Sarfarazi, M., Brown, C., Thomas, N. and Harper, P.S. (1986). The use of flanking markers in prediction for Duchenne muscular dystrophy. Arch. Dis. Child. 61: 218-222.

Zatz, M. and Otto, P.A. (1980). The use of concomitant serum pyruvate kinase (PK) and creatine phosphokinase (CPK) for carrier detection in Duchenne muscular dystrophy through discriminant analysis. J. Neurol. Sci. 47:411-417.

Zatz, M. and Otto, P.A. (1986). Evaluation of carrier detection rates for Duchenne and Becker muscular dystrophies using creatine kinase and pyruvate kinase through discriminant analysis. Am. J. Med. Genet. 25: 219-230.