Table 1

Haplotype data in families linked to the chromosome 2p16 dominant drusen locus. Italicised area indicates common haplotype and thus common ancestry. Bar indicates EFEMP1 intragenic markers

PedigreeD2S2739D2S2352D2S2251133018CAEFEMP1322A4AATD2S378
Intron 4Intron 8Intron 9R345W mutation
UK172 11 2 1 2 U Yes 3 3
UK2105 11 3 1 2 U Yes 3 3
UK3105 11 3 1 2 U Yes 3 3
UK435 11 3 1 2 U Yes 3 3
US154 11 3 U 2 2 Yes 3 3
US21028 3 1 2 2 Yes 22
US36210 3 1 2 2 Yes 32
UK57283U22No39
UK66761U22No28
  • U = uninformative. Families UK5 and UK6, despite linkage to the region, do not share the common haplotype or have theR345W mutation.