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The CYP2A6*4 allele, characterized as the whole deletion of this gene, is closely associated with nicotine dependence, cancer susceptibility, and drug responsiveness.
The outside primers (cre5'F and cre3'R) were used for the amplification of the whole deletion fragment in a fusion PCR assay.
The two mutations designed in S9 included either a half-deletion of the first flexible loop of VP6 (nt 115 nt 291) (d1), or a whole deletion (nt 115 nt 405) (d2) (Fig. 3A).
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Partial and whole deletions have recently been reported in HNF1A and GCK [ 15].
There was not much difference in the degrees of sensitivity among the mutants with single gene deletions or the whole operon deletion, thus suggesting their role in a common pathway.
Our method, however, does have limitations as it would miss deletions at the site of PCR primers, whole gene deletions, or deletions within the promoter region all of which have been infrequently detected in PJS (Volikos et al, 2006).
Deletions comprised two whole gene deletions and two intragenic deletions of exon 7 and exons 8 and 9, respectively.
There are also deletions (n = 9; including 1 whole gene deletion), duplications (n = 2), insertions (n = 1), and indels (n = 1), all of which are predicted to result in frameshift and premature termination of transcription.
In contrast to chemical mutagenesis (e.g. ethyl methanesulfonate EMS treatment) which generates frequent point mutations and small deletions, HII generates a relatively high frequency of large (whole gene) deletion mutations.
Consistent with our rbbA and yhjD whole genome deletion screens, the recipient NDH1 and sdh complexes bearing individual gene deletions exhibited SSL phenotypes when combined with ΔrbbA and ΔyhjD donor mutants.
Not only whole cluster deletions, but also deletions upstream of the 16q24.1 FOX cluster, are associated with an abnormal phenotype.
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