Allele frequencies of Δ525T and Δexon 18 mutations in different populations
| Populations | Δ525T | Δexon 18 | |||||
|---|---|---|---|---|---|---|---|
| Chromosomes “at risk”1-151 | Number positive | Allele frequency | Chromosomes “at risk”1-151 | Number positive | Allele frequency | ||
| Previous publications 1-150 | |||||||
| Dutch | 93 | 30 | 0.34 | 93 | 21 | 0.23 | |
| “Non-Dutch” | 86 | 4 | 0.04 | 86 | 1 | 0.012 | |
| This paper | |||||||
| Whites (non-Canadian) | 34 | 3 | 0.09 | 61 | 3 | 0.05 | |
| Whites (Canadian) | 8 | 2 | 0.25 | 8 | 2 | 0.25 | |
| Whites (total) | 42 | 5 | 0.12 | 69 | 5 | 0.07 | |
| Non-whites | 16 | 0 | 0.00 | 20 | 0 | 0.00 | |
| All patients (this paper) | 58 | 5 | 0.09 | 89 | 5 | 0.06 | |
↵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