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Table 4 Distribution of SNPs haplotypes in the patients carrying only one heterozygous mutation and in patients with two characterized mutated alleles.

From: Mild forms of hypophosphatasia mostly result from dominant negative effect of severe alleles or from compound heterozygosity for severe and moderate alleles

Haplotype Patients with 1 mutation
(n = 48)
  Other patients
(n = 74)
  P value
Haplotype A: T-C-G-G-C-C-T-A 54 (0.57) 73 (0.79) 99 (0.67) 137 (0.93) 1.9 10-1
Haplotype B: T-T-G-G-C-C-T-A 12 (0.13)   23 (0.16)   6.2 10-1
Haplotype C: T-C-G-G-T-C-T-A 7 (0.07)   5 (0.03)   1.4 10-1
Haplotype D: T-C-T-A-T-C-T-A 1 (0.01)   0   
Haplotype F: T-C-T-A-T-C-T-A 0   2 (0.02)   
Haplotype G: T-C-G-G-C-G-T-G 0   2 (0.01)   
Haplotype H: C-C-T-A-T-G-T-G 0   1 (0.01)   
Haplotype I: C-T-G-G-C-G-C-G 0   1 (0.01)   
Haplotype J: C-T-G-G-T-C-T-A 1   1 (0.01)   
Haplotype K: C-C-T-A-C-G-C-G 0   2 (0.02)   
Haplotype L: T-T-G-G-T-C-T-A 0   2 (0.02)   
Haplotype E: C-C-T-A-T-G-C-G 19 (0.20) 19 (0.21) 10 (0.07) 10 (0.07) 1.4 10-3
Total 94 94 148 148  
  1. Haplotypes are defined by the nucleotide at the SNP locus in the following order: c.787T>C, c.793-31C>T, c.862+20G>T, c.862+51G>A, c.862+58C>T, c.863-12C>G, c.863-7T>C, c.876A>G.