Genotypic studies are important to understand the molecular epidemiology and transmission routes of Mycobacterium tuberculosis. In the first and largest study from India, spoligotyping and 24 loci mycobacterial interspersed repetitive units (MIRU) were performed to find genetic profiles of 125 M. tuberculosis strains isolated from patients with extrapulmonary tuberculosis (EPTB) and their drug susceptibility test was performed using BACTEC-MGIT 960. Spoligotyping results were compared with the world Spoligotyping Database of Institute Pasteur de Guadeloupe (SpolDB4). The spoligotyping results showed that 110 (88%) displayed known patterns while 15 (12%) isolates had no matching database. Predominant spoligotypes belonged to CAS family (57.27%). The largest clade comprised of 38 isolates belonging to the CAS1_DEL lineage. Though there was no significant association between specific mycobacterial lineage and extrapulmonary site, a significantly high (p < 0.001) number of Beijing type isolates (28.6%) were isolated from bone and joint samples as compared to cerebrospinal fluid (5%). There was a significant association between Beijing family isolates and multi-drug-resistance, while all MANU genotypes were pan-drug sensitive. The CAS family lineage was most prevalent genotype in the EPTB cases in our population.
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