Identification of a 25 bp insertion/ deletion polymorphism in the GJA5 3
UTR. Sequence traces from human atrial gDNA from (A) a deletion homozygote, (B) an insertion homozygote, and (C) a heterozygote are shown. Nucleotide sequence numbering is based on the GJA5 Refseq entry (NM_181703). (D) PCR assay of atrial gDNA from 15 individuals, identifying homozygotes for the insertion (upper band, 206 bp), homozygotes for the deletion (lower band, 181 bp), and heterozygotes (with both bands). Screening of 67 atrial samples determined the minor allele frequency of the insertion to be 0.45.