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Attempted detection of heterozygotes for maple‐syrup‐urine disease
Author(s) -
McKnight Mary T.,
Spence M. W.
Publication year - 1972
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/j.1399-0004.1972.tb01481.x
Subject(s) - heterozygote advantage , maple syrup urine disease , obligate , biology , medicine , endocrinology , urine , zygote , genetics , leucine , allele , amino acid , gene , botany , embryogenesis
The production of 14 CO 2 from [1‐ 14 C] leucine by isolated leucocytes from four females and three males heterozygous for maple‐syrup‐urine disease (M. S. U. D.) of classical phenotypc and from urban and rural control groups was determined. Although not significantly different, values tended to be lower for female than for male controls and for rural than for urban controls. The mean values for females (heterozygotes, and rural and urban controls) were not significantly different, and although the mean value for male heterozygotes was significantly less than the means for male controls and female obligate heterozygotes, some male controls had values within the hetero‐zygote range. Thus, the unambiguous identification of heterozygotes in this kindred was not possible with this assay system.