FIGURE 4
FROM:
A splice-site mutation and overexpression of MYO6 cause a similar phenotype in two families with autosomal dominant hearing loss
Nele Hilgert, Vedat Topsakal, Joost van Dinther, Erwin Offeciers, Paul Van de Heyning and Guy Van Camp
BACK TO ARTICLEFigure 4.

RT-PCR of a fragment containing the cryptic exon in family 2. RNA was obtained from lymphoblasts. Two separate bands could be identified for both patients, but for none of the unaffected family members: the wild-type fragment and a fragment about 100 bp larger, containing the cryptic exon. (a) PCR obtained by using primer set 1, showing the wild-type fragment of 1141 bp and the larger fragment of
1240 bp. (b) Nested PCR by use of primer set 2 and nested primer set 3, resulting in a 161 bp wild-type fragment and a 269 bp fragment carrying the mutation. Above the 269 bp fragment, another fragment was visible, but we did not succeed in sequencing this fragment to obtain the exact sequence.
