Two Portuguese Cochlear Implanted Dizygotic Twins: A Case Report
Figure 2
Electrophoresis results. (a) Enzymatic restriction with BslI for identification of c.35delG mutation according to Storm et al. [11]. Gama frg: internal restriction control (153bp band); Und Ctr: undigested restriction control (209 bp and 153 bp bands); c.35delG Ctr: c.35delG homozygous control (186 bp band). Homozygous mutated individuals present only the 186 bp band and heterozygous individuals present both the 209 bp and 186 bp bands. (b) PCR multiplex for identification of del(GJB6-D13S1830) and del(GJB6-D13S1854) according to del Castillo et al. [10]. Del 1854: heterozygous control for del(GJB6-D13S1854); Del 1830: heterozygous control for del(GJB6-D13S1830). The 333 bp band corresponds to nonmutated allele, the 460 bp band to del(GJB6-D13S1830) mutated allele and 564 bp band to del(GJB6-D13S1854) mutated allele.
