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Egyptian Journal of Medical Human Genetics

Table 3 GJB2 intragenic haplotypes in hearing impaired and in normal hearing subjects among carriers/noncarriers of mutations c.35dupG, c.35delG, and p.W77R

From: Undescribed GJB2 c.35dupG homozygous prelingual distinguished from c.35delG homozygous/compound heterozygous deafs, dwelling a German ancestry Venezuelan isolate

Haplotype

Chromosomal phase (n = 81)

Totals

c.35dupG

c.35delG

p.W77R

trans

n (%)

T;T;G;A;C

17 (100%)

 

4(100%)

33

54 (66.7%)

C;C;G;A;T*

 

3

 

4

7 (8.6%)

C;C;G;A;C

 

5

 

3

8 (9.9%)

T;C;G;A;T

   

5

5 (6.2%)

T;C;G;A;C*

   

3

3 (3.7%)

T;T;G;A;T

   

2

2 (2.5%)

C;C;A;A;T*

   

2

2 (2.5%)

Totals

17 (21.0%)

8 (9.9%)

4 (4.9%)

52 (64.2%)

81 (100.0)

  1. * Carried only by subjects with at least one parent with no German ancestry. SNP haplotype order: rs117685390 (T>C), rs7994748 (C>T), rs2274084 (G>A), rs2274083 (A>G), and rs3751385 (T>C)
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