In the HRPT2 gene, one missense mutation was revealed.
No mutation was revealed in RP-associated genes.
All exons and splice acceptor/donor sites were amplified by PCR from genomic ostes/ ostes DNA and screened for mutation by sequencing, but intriguingly, no mutation was revealed.
Understanding the puzzling genetic features in DM1 pedigrees and an extreme clinical variation of the disease became possible when the underlying mutation was revealed [ 7– 9].
Monocytopenia with susceptibility to atypical mycobacterial infection, such as mycobacteriuma avium complex, was described as 'monoMAC' (Vinh et al, 2010) and GATA2 mutation was revealed by a candidate sequencing approach (Hsu et al, 2011).
Once a mutation was revealed, the eight-fold pool (samples: 1 8) was remixed into eight discrete pools consisting of two individuals each (samples: 1&2, 3&4, 5&6, 7&8, 1&3, 2&4, 5&7, and 6&8).
More recently, it was confirmed that the rs33980500 (p.D10N) mutation affects the binding of Act1 to TRAF6, and the importance of this mutation was revealed by the observation that other recently discovered SNPs in the TRAF3IP2 gene do not influence this interaction [ 18].
We also performed whole-exome sequencing, but no other pathogenic mutations were revealed.
Potential point mutations were revealed by dHPLC analyses.
Additionally, 1454 and 724 nonsynonymous point mutations were revealed in IR-treated 3FB4-1 and MEF, respectively.
