Table 2

 Haplotypes associated with the del(GJB6-D13S1854) mutation

Marker†Heterozygosity‡ (%)Haplotype*Genotype for CEPH individual 134702
ABCD
*We only report here those cases in which the haplotype associated with the deletion could be determined unambiguously. Allele sizes were determined by DNA sequencing of a control sample, which was used as a standard in genotyping assays. To allow other laboratories to compare their data with those reported in this work, we provide allele sizes for individual 134702, available from CEPH.25
†Relative order and physical distances are as follows: (TG)n – 110 kb – (GAAA)n – 9 kb – deletion proximal breakpoint – 232 kb – deletion distal breakpoint – 6 kb – D13S1853 – 60 kb – D13S1830.
‡Calculated from 100 Spanish control chromosomes.
(TG)n65208204206208206/208
(GAAA)n79209209209209209/216
D13S185366204204204204202/202
D13S183071153153153156153/156
Number and geographical distribution of haplotypes (n = 14)6 Spain1 Spain1 Spain2 Spain
2 UK1 UK
1 Italy
Total: 9 Total: 2 Total: 1 Total: 2