Table 13 Genotype-phenotype correlation of GJB2/GJB6 mutations in the offspring of DXD mating
| Â | Â | BOTH PARTNERS HAVING GJB2 | ONLY ONE PARTNER WITH GJB2 | ONLY ONE PARTNER WITH GJB6 | ONLY ONE PARTNER WITH GJB2/GJB6 | Â | Â | |||
|---|---|---|---|---|---|---|---|---|---|---|
S. No. | SUBGROUPS IN DXD MATING BASED ON PHENOTYPE OF OFFSPRING | BOTH HOMOZYGOUS OR COMPOUND HETEROZYGOUS | BOTH HETEROZYGOUS | ONE HOMOZYGOUS, ONE HETEROZYGOUS | HOMOZYGOUS | HETEROZYGOUS | ONE HETEROZYGOUS | DIGENIC | NON-GJB2 & NON-GJB6 | TOTAL (%) |
1 | Non-complementary with all deaf offspring | 8 | 0 | 0 | 1 | 1 | 1 | 0 | 6* | 17 (28.33%) |
2 | Complementary with all hearing offspring | 0 | 1 | 1 | 11 | 6 | 0 | 1 | 10# | 30 (50%) |
3 | Mixed offspring (hearing and hearing impaired) | 0 | 0 | 0 | 0 | 1 | 0 | 0 | 1 | 2 (3.33%) |
4 | NO OFFSPRING | 0 | 0 | 1 | 4 | 0 | 1 | 0 | 5 | 11 (18.33%) |
5 | TOTAL | 8 | 1 | 2 | 16 | 8 | 2 | 1 | 22 | 60 |