A GENETICAL STUDY OF ETHANOLAMINE PHOSPHATE EXCRETION IN HYPOPHOSPHATASIA

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Abstract
Summary: The ethanolamine phosphate excretion of 381 relatives of sixteen cases of hypophosphatasia was studied by paper chromatography. Eighty‐one of these individuals excreted small, but significantly abnormal amounts of ethanolamine phosphate. Their relationship to the patients suggested that they were heterozygous for the rare gene causing the full syndrome of hypophosphatasia in homozygotes. All the heterozygotes expected could not be detected using the methods employed, but it was estimated that 58 % could be demonstrated. The rate of manifestation was not significantly different in different groups of relatives, nor was it affected by age or sex. A positive sib‐sib correlation with regard to rate of manifestation, and the absence of any such correlation between parent and child was interpreted as meaning that there may be more than one allele at the locus under consideration.