Table 1

Allele frequencies of Δ525T and Δexon 18 mutations in different populations

PopulationsΔ525TΔexon 18
Chromosomes “at risk”1-151Number positiveAllele frequencyChromosomes “at risk”1-151Number positiveAllele frequency
Previous publications 1-150
This paper
Whites (non-Canadian)3430.096130.05
Whites (Canadian)820.25820.25
Whites (total)4250.126950.07
All patients (this paper)5850.098950.06
  • 1-150 Converted from data in reference 1 (see text).

  • 1-151 Chromosomes at risk for carrying an “infantile onset” mutation (see text).

  • Number positive=number of chromosomes carrying the mutation.

  • The Δexon 18 mutation was screened for by PCR of genomic DNA as previously described4 and the Δ525T mutation by presence of a new DdeI site in exon 2 essentially as described in Wokke et al.9