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Familial apolipoprotein CII deficiency: A preliminary analysis of the gene defect in two independent families


We have used a cDNA clone for human apolipoprotein CII (apo CII) to study the apo CII genes in two independent individuals with familial apo CII deficiency. With all the restriction enzymes so far used, gene fragments hybridising with apo CII cDNA are observed that are indistinguishable from normal samples. This demonstrates that in neither of these individuals is the defect due to a major deletion of DNA in or around the apo CII gene. We have used a common polymorphism of the apo CII gene detected with the enzyme TaqI to follow the inheritance of the gene in the families of these apo CII deficient individuals. The pattern of inheritance that we observe is consistent with the defect causing apo CII deficiency being in, or closely linked to the apo CII structural gene.

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Correspondence to S. E. Humphries.

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Humphries, S.E., Williams, L., Myklebost, O. et al. Familial apolipoprotein CII deficiency: A preliminary analysis of the gene defect in two independent families. Hum Genet 67, 151–155 (1984).

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  • Restriction Enzyme
  • Metabolic Disease
  • Structural Gene
  • Preliminary Analysis
  • cDNA Clone