Characterization of mutations causing rifampicin and isoniazid resistance of Mycobacterium tuberculosis in Syria.

In order to characterize mutations causing rifampicin and isoniazid resistance of M. tuberculosis in Syria, 69 rifampicin resistant (Rif(r)) and 72 isoniazid resistant (Inh(r)) isolates were screened for point mutations in hot spots of the rpoB, katG and inhA genes by DNA sequencing and real time PCR. Of 69 Rif(r) isolates, 62 (90%) had mutations in the rifampin resistance determining region (RRDR) of the rpoB gene, with codons 531 (61%), 526 (13%), and 516 (8.

Combination of conventional multiplex PCR and quantitative real-time PCR detects large rearrangements in the dystrophin gene in 59% of Syrian DMD/BMD patients.

Objectives: Adaptation of a low-cost protocol to diagnose large rearrangements of the dystrophin gene in DMD/BMD Syrian patients and to establish the distribution of these mutations in the 2 hotspots.

Design And Methods: gDNA from 51 unrelated Syrian DMD/BMD male patients was isolated and analyzed by multiplex PCR of 25 hotspot exons in order to detect deletions. Patients who did not show any deletions were further analyzed by quantitative real-time PCR and the DeltaDeltaCt method in order to detect duplications in exons 4, 17, 47 and 52.