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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.