Table 4.

Comparison of HFE Gene Frequencies in XLSA to Those in Normal Individuals

Population XLSA Hemizygotes4-150Random Controls4-151References
Total Chromosomes C282Y Alleles H63D Alleles Total Chromosomes C282Y Alleles H63D Alleles
United Kingdom  16  2  4  624  37  81  41, 42  
United States  8  1  2  312  19  49  25, 38, 43 
Italy  6  1  0  234  2  28  44, 45  
France 2  1  1  78  3  13  46-48  
Germany  2  0  78  3  11  42  
The Netherlands  2  0  78  2  23  42  
Total:  36  5  1,404  66  205  
At-Risk allele frequency  0.172 0.226   0.055  0.153  
 χ2 =  4.06  0.097   —  — 
P =   .044  .449   — — 
Population XLSA Hemizygotes4-150Random Controls4-151References
Total Chromosomes C282Y Alleles H63D Alleles Total Chromosomes C282Y Alleles H63D Alleles
United Kingdom  16  2  4  624  37  81  41, 42  
United States  8  1  2  312  19  49  25, 38, 43 
Italy  6  1  0  234  2  28  44, 45  
France 2  1  1  78  3  13  46-48  
Germany  2  0  78  3  11  42  
The Netherlands  2  0  78  2  23  42  
Total:  36  5  1,404  66  205  
At-Risk allele frequency  0.172 0.226   0.055  0.153  
 χ2 =  4.06  0.097   —  — 
P =   .044  .449   — — 
F4-150

Calculated from patient data listed in Table 3 omitting family 1 and the heterozygotes.

F4-151

The proportion of normal chromosomes analyzed for the 6 representative populations was kept identical to those for the XLSA populations. The absolute number of chromosomes in each population was set proportional to that for The Netherlands population, which was, relatively, the smallest sample size. The number of C282Y and H63D alleles in each population was calculated using the respective allele frequency found in the particular study.

Calculated as: frequency = [C282Y Alleles]/[(Total Chromosomes) − (H63D Alleles)] and [H63D Alleles]/[(Total Chromosomes) − (C282Y Alleles)], since there is complete linkage disequilibrium between C282Y and H63D.

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