Heterozygous carriers in the relatives of a case of phenylketonuria

Autor:	Risto Kääriäinen, Rolf Karlsson
Rok vydání:	2009
Předmět:	Male Genetics Heterozygote Pediatrics medicine.medical_specialty Computers Phenylketonurias Phenylalanine General Medicine Biology Body weight Linear discriminant analysis Pedigree medicine Humans Tyrosine Female Mathematics
Zdroj:	Hereditas. 75:109-118
ISSN:	0018-0661
DOI:	10.1111/j.1601-5223.1973.tb01147.x
Popis:	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.
Databáze:	OpenAIRE
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