A simple model for the estimation of congenital malformation frequency in racially mixed populations

Lopez-Camelo, J.S.; Cabello, P.H.; Dutra, M.G.

doi:10.1590/S0100-84551996000400024

Abstract

A simple model is proposed, using the method of maximum likelihood to estimate malformation frequencies in racial groups based on data obtained from hospital services. This model uses the proportions of racial admixture, and the observed malformation frequency. It was applied to two defects: postaxial polydactyly and cleft lip, the frequencies of which are recognizedly heterogeneous among racial groups. The frequencies estimated in each racial group were those expected for these malformations, which proves the applicability of the method.

congenital malformation; racially mixed populations

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A simple model for the estimation of congenital malformation frequency in racially mixed populations

J.S. Lopez-Camelo; P.H. Cabello; M.G. Dutra

Departamento de Genética, Instituto Oswaldo Cruz, Av. Brasil 4365, 21045-900 Rio de Janeiro, Brasil. Phone: 55-21-5984358; Fax: 55-21-5903495. Send correspondence to J.S.L.-C.

ABSTRACT

A simple model is proposed, using the method of maximum likelihood to estimate malformation frequencies in racial groups based on data obtained from hospital services. This model uses the proportions of racial admixture, and the observed malformation frequency. It was applied to two defects: postaxial polydactyly and cleft lip, the frequencies of which are recognizedly heterogeneous among racial groups. The frequencies estimated in each racial group were those expected for these malformations, which proves the applicability of the method.

Keywords: congenital malformation; racially mixed populations.

Altemus, L.A. and Ferguson, A.D. (1965). Comparative incidence of birth defects in negro and white children. Pediatrics 36: 56-61.
Castilla, E.E. and Orioli, I.M. (1983). El Estudio Colaborativo Latinoamericano de Malformaciones Congenitas: ECLAMC/MONITOR. Interciencia 8: 271-278.
Chakraborty, R. and Weiss, K.M. (1986). Frequencies of complex diseases in hybrid populations. Am. J. Phys. Anthropol. 70: 489-503.
Christianson, R.E., Van Den Berg, B.J., Milkovich, L. and Oechsli, F. (1981). Incidence of congenital anomalies among White and Black live births with long-term follow-up. Am. J. Public Health 71: 1333-1341.
Chung, C.S. and Myrianthopoulos, N.C. (1968). Racial and prenatal factors in major congenital malformations. Am. J. Hum. Genet. 20: 44-60.
Chung, C.S. and Kau, M.C. (1985). Racial differences in cefalometric measurements and incidence of cleft lip with or without cleft palate. J. Craniofac. Genet. Dev. Biol. 5: 341-349.
Chung, C.S., Ching, G.H.S. and Morton, N.E. (1974). A genetic study of cleft lip and palate in Hawaii. II. Complex segregation analysis and genetic risk. Am. J. Hum. Genet. 26: 177-188.
C.M.W. (1991). Congenital Malformations Worldwide: A Report from the International Clearinghouse for Birth Defects Monitoring Systems. Elsevier Science Publishers B.V., Amsterdam, pp. 89-94.
Dutra, M.G. (1989). Análise da etnicidade em populações urbanas da América do Sul. Doctoral thesis, Universidade Federal do Rio de Janeiro, Rio de Janeiro, RJ.
Elston, R.C. (1969). Iteration problems. In: Computer Applications in Genetics (Morton, N.E., ed.). University of Hawaii Press, Hawaii, pp. 30-37.
Erickson, J.D. (1976). Racial variations in the incidence of congenital malformations. Ann. Hum. Genet. 39: 315-320.
Krieger, H., Morton, N.E., Mi, M.P., Azevedo, E., Freire-Maia, A. and Yasuda, N. (1965). Racial admixture in northeastern Brazil. Ann. Hum. Genet. 29: 113-125.
Kromberg, J.G.R. and Jenkins, T. (1982). Common birth defects in South African Blacks. S. Af. Med. J. 62: 599-602.
Lisker, R., Perez-Briceno, R., Granados, J., Babinsky, V., De Rubens, J., Armendares, S. and Buentello, L. (1986). Gene frequencies and admixture estimates in a Mexico City population. Am. J. Phys. Anthropol. 71: 203-207.
Marazita, M.L., Spence, M.A. and Melnick, M. (1986). Major gene determination of liability to cleft lip with or without cleft palate: multiracial view. J. Craniof. Genet. Dev. Biol. 2 (Suppl.): 89-97.
Melnick, M., Marazita, M.L. and Hu, D.N. (1986). Genetic analysis of cleft lip with or without cleft palate in Chinese kindreds. Am. J. Med. Genet. 2 (Suppl.): 183-190.
Neel, J.V. (1958). A study of major congenital defects in Japanese infants. Am. J. Hum. Genet. 10: 398-445.
Orioli, I.M. and Grisolia, S.V. (1992). Geographic variation in the frequency of selected birth defects in Latin America. Genet. Reprod. Epidemiol. Res. Soc. 1: 83-96.
Paz, J.E. and Castilla, E.E. (1976). Minimal loci number estimate for postaxial polydactyly in humans. Excerpta Médica, International Congress Series 397: 192.

Publication Dates

Publication in this collection
27 Oct 2006
Date of issue
1996

This work is licensed under a Creative Commons Attribution-NonCommercial 4.0 International License.

[1] Altemus, L.A. and Ferguson, A.D. (1965). Comparative incidence of birth defects in negro and white children. Pediatrics 36: 56-61.

[2] Castilla, E.E. and Orioli, I.M. (1983). El Estudio Colaborativo Latinoamericano de Malformaciones Congenitas: ECLAMC/MONITOR. Interciencia 8: 271-278.

[3] Chakraborty, R. and Weiss, K.M. (1986). Frequencies of complex diseases in hybrid populations. Am. J. Phys. Anthropol. 70: 489-503.

[4] Christianson, R.E., Van Den Berg, B.J., Milkovich, L. and Oechsli, F. (1981). Incidence of congenital anomalies among White and Black live births with long-term follow-up. Am. J. Public Health 71: 1333-1341.

[5] Chung, C.S. and Myrianthopoulos, N.C. (1968). Racial and prenatal factors in major congenital malformations. Am. J. Hum. Genet. 20: 44-60.

[6] Chung, C.S. and Kau, M.C. (1985). Racial differences in cefalometric measurements and incidence of cleft lip with or without cleft palate. J. Craniofac. Genet. Dev. Biol. 5: 341-349.

[7] Chung, C.S., Ching, G.H.S. and Morton, N.E. (1974). A genetic study of cleft lip and palate in Hawaii. II. Complex segregation analysis and genetic risk. Am. J. Hum. Genet. 26: 177-188.

[8] C.M.W. (1991). Congenital Malformations Worldwide: A Report from the International Clearinghouse for Birth Defects Monitoring Systems. Elsevier Science Publishers B.V., Amsterdam, pp. 89-94.

[9] Dutra, M.G. (1989). Análise da etnicidade em populações urbanas da América do Sul. Doctoral thesis, Universidade Federal do Rio de Janeiro, Rio de Janeiro, RJ.

[10] Elston, R.C. (1969). Iteration problems. In: Computer Applications in Genetics (Morton, N.E., ed.). University of Hawaii Press, Hawaii, pp. 30-37.

[11] Erickson, J.D. (1976). Racial variations in the incidence of congenital malformations. Ann. Hum. Genet. 39: 315-320.

[12] Krieger, H., Morton, N.E., Mi, M.P., Azevedo, E., Freire-Maia, A. and Yasuda, N. (1965). Racial admixture in northeastern Brazil. Ann. Hum. Genet. 29: 113-125.

[13] Kromberg, J.G.R. and Jenkins, T. (1982). Common birth defects in South African Blacks. S. Af. Med. J. 62: 599-602.

[14] Lisker, R., Perez-Briceno, R., Granados, J., Babinsky, V., De Rubens, J., Armendares, S. and Buentello, L. (1986). Gene frequencies and admixture estimates in a Mexico City population. Am. J. Phys. Anthropol. 71: 203-207.

[15] Marazita, M.L., Spence, M.A. and Melnick, M. (1986). Major gene determination of liability to cleft lip with or without cleft palate: multiracial view. J. Craniof. Genet. Dev. Biol. 2 (Suppl.): 89-97.

[16] Melnick, M., Marazita, M.L. and Hu, D.N. (1986). Genetic analysis of cleft lip with or without cleft palate in Chinese kindreds. Am. J. Med. Genet. 2 (Suppl.): 183-190.

[17] Neel, J.V. (1958). A study of major congenital defects in Japanese infants. Am. J. Hum. Genet. 10: 398-445.

[18] Orioli, I.M. and Grisolia, S.V. (1992). Geographic variation in the frequency of selected birth defects in Latin America. Genet. Reprod. Epidemiol. Res. Soc. 1: 83-96.

[19] Paz, J.E. and Castilla, E.E. (1976). Minimal loci number estimate for postaxial polydactyly in humans. Excerpta Médica, International Congress Series 397: 192.