But when the goal is to simply fix a point mutation
, base editing offers a more efficient and cleaner solution.
A novel point mutation
in the peripheral myelin protein 22 (PMP22) gene associated with Charcot-Marie-Tooth disease type 1A.
Dr Rami Kantor, Associate Professor of Medicine, Brown University, USA, elaborated the importance of point mutation
assays and drug resistance testing in HIV management.
There are two types of mutations can be performed on the crossover chromosome such as inverse mutation and single point mutation
A point mutation
in the RDS-peripherin gene in a Spanish family with central areolar choroidal dystrophy.
This trial is designed to assess the safety, tolerability and pharmacokinetics of EPZ-6438 (E7438), an orally available, small molecule inhibitor for non-Hodgkin lymphoma patients, with a cancer-causing (oncogenic) point mutation
in EZH2, a histone methyltransferase (HMT) that can become oncogenic and cause non-Hodgkin lymphoma and solid tumors.
One specimen in this study contained a novel, single, point mutation
During this time, patients with a specific point mutation
in the gene that helps break down the drug, UGT, metabolize the drug slower.
No point mutation
was observed and all four isolates presented wild-type sequences at DHPS gene by RFLP analysis.
When compared with the gene coding for isoxaben or TZ-sensitive cellulose synthase, one of the resistant CS genes contains a point mutation
, wherein glycine residue 998 is replaced by an aspartic acid.
5) The cause is believed to involve a point mutation
on chromosome 20 (20q12-q13) within the Gs alpha region; as a result of the mutation, the activity of the Gs protein, and thus of adenyl cyclase, is increased.
The most likely explanation is the low genetic barrier to resistance produced by synergistic selection pressure from all 3 drugs for 2 point mutation
, M184V and K65R.