Open AccessHeterozygous carriers in the relatives of a case of phenylketonuria
Author(s) -
KÄÄRIÄINEN RISTO,
KARLSSON ROLF
Publication year - 1973
Publication title -
hereditas
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.819
H-Index - 50
eISSN - 1601-5223
pISSN - 0018-0661
DOI - 10.1111/j.1601-5223.1973.tb01147.x
Subject(s) - heterozygote advantage , discriminant , linear discriminant analysis , phenylketonurias , biology , tyrosine , logarithm , compound heterozygosity , genetics , phenylalanine , statistics , mathematics , allele , biochemistry , gene , artificial intelligence , mathematical analysis , amino acid , computer science
The 10 adult relatives of a known case of phenylketonuria (PKU) were analysed with the criterion groups of normal controls (N = 24) and heterozygotes (N = 16), with values of fasting and loading phenylalanine (100 mg/kg of body weight) and tyrosine to demonstrate which of the relatives fell outside or inside the heterozygous zone. The first original 6 and all 12 logarithmic variables were used in the computerized discriminant analysis. The discriminant scores did not overlap and 6 of the relatives including both parents were classified as heterozygous carriers. The discrimination powers of the method used were higher than in the best reported studies and indicate that the problem of overlapping and misclassification can be avoided with the computerized discriminant analysis.