Table 4

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


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.

Fauvert et al. BMC Medical Genetics 2009 10:51   doi:10.1186/1471-2350-10-51

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