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

Table 9 Frequency and distribution of GJB2 and GJB6 genotypes observed among the mates of DXN mating

S. No.	Genotypes	Affected Partner (n= 46)	Frequency (%)	Normal hearing partner (n=43)*	Frequency (%)
I	GJB2-Biallelic
1	W24X/W24X	11	23.91	0	0
2	Q124X/Q124X	1	2.17	0	0
3	T86M/T86M	1	2.17	0	0
4	W24X/W77X	1	2.17	0	0
5	W24X/A88A	1	2.17	0	0
6	R153I/R165W	0		1	2.33
6	M195I/P225P	1	2.17	0	0
II	GJB2-Monoallelic
1	W24X/+	4	8.7	6	13.95
	T86M/+	0	0	1	2.33
	Q124X/+	0	0	1	2.33
2	R127H/+	4	8.7	6	13.95
3	V153I/+	1	2.17	2	4.65
4	A88A/+	1	2.17	1	2.33
III	GJB6-Monoallelic
1	E101Q/+	1	2.17	0	0

* Out of the 46 normal hearing partners, three did not participate in the molecular study. All the three did not have any parental consanguinity

ISSN: 1471-2350