Table 2

Polymorphisms and sequence variations found in this study

MutationsLocationNucleotide changesGenotypeAMD (n=80)Control (n=100)
P1116Sexon 23CAC→CTThomozygote80 (100%)100 (100%)
H1125Lexon 23CAC→CTChomozygote80 (100%)100 (100%)
Q1126Lexon 23CAA→CTThomozygote80 (100%)100 (100%)
L1844Lexon 41CTG→CTChomozygote2 (2.5%)1 (1%)
L1844Lexon 41CTG→CTCheterozygote17 (21.3%)28 (28%)
P1948Pexon 43CCA→CCGhomozygote2 (2.5%)1 (1%)
P1948Pexon 43CCA→CCGheterozygote17 (21.3%)28 (28%)