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Table 8 Frequency and distribution of GJB2 and GJB6 genotypes observed among the 118 hearing impaired mates of DXD mating

From: Role of DFNB1 mutations in hereditary hearing loss among assortative mating hearing impaired families from South India

S. No.

GJB2 and GJB6 genotypes

HI Husband (n=58)*

Frequency %

HI Wife (n=60)

Frequency %

Total (n=118)

Combined Frequency (%)

I

GJB2-Biallelic & Triallelic

      

1

W24X/W24X

13

22.41

13

21.67

26

22.03

2

V153I/V153I

1

1.72

2

3.33

3

2.54

3

W77X/W77X

1

1.72

1

1.67

2

1.7

4

R127H/R127H

1

1.72

1

1.67

2

1.7

5

R127H/V153I

1

1.72

1

1.67

2

1.7

6

V27I/E114G

1

1.72

1

1.67

2

1.7

7

E42D/E42D

0

0

1

1.67

1

0.85

8

W77X/Q124X

0

0

1

1.67

1

0.85

9

W24X/I35S

0

0

1

1.67

1

0.85

10

Q124X/IVS1+1G>A

0

0

1

1.67

1

0.85

11

R75Q#/V153I

0

0

1

1.67

1

0.85

12

V37I/V153I

1

1.72

0

0

1

0.85

13

V153I/R165W

0

0

1

1.67

1

0.85

14

R184Q#/Q124X/IVS1+1G>A

1

1.72

0

0

1

0.85

15

W24X/T55T/R127H

1

1.72

0

0

1

0.85

II

GJB2-Monoallelic

      

1

R127H/+

9

15.52

9

15

18

15.25

2

W24X/+

4

6.9

2

3.33

6

5.08

3

V153I/+

2

3.45

1

1.67

3

2.54

4

IVS1+1G>A/+

0

 

2

1.67

2

1.7

5

I35S/+

0

 

1

1.67

1

0.85

III

GJB6-Monoallelic

      

1

R104H/+

1

1.72

0

0

1

0.85

2

Q57R/+

1

1.72

0

0

1

0.85

IV

GJB2/GJB6-Digenic

      

1

E42D/+; R104H/+

1

1.72

0

0

1

0.85

  1. * Out of the 60 DXD couples comprising of 120 individuals, 2 individuals did not participate in the molecular study
  2. #Autosomal dominant mutations