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PCR analysis of the deletion in affected individuals (N4 and N5), parents of N4 (N2 and N3, who are obligate carriers), and a control subject (C). Primers are shown in fig. 2B. In the control subject, amplification with primers MHB1333/1334 results in a 257-bp fragment, whereas, in carriers, primers MHB1370/1334 gave an additional 606-bp fragment. In Navajos with OCA2, only the 606-bp fragment is amplified. M = molecular ladder.
