Genome-wide runs of homozygosity (ROH) are suitable for understanding population history, calculating genomic inbreeding, deciphering genetic architecture of complex traits and diseases as well as identifying genes linked with agro-economic traits. Autozygosity and ROH islands, genomic regions with elevated ROH frequencies, were characterized in 112 animals of seven Indian native cattle breeds (B. indicus) using BovineHD BeadChip. In total, 4138 ROH were detected. The average number of ROH per animal was maximum in draft breed, Kangayam (63.62 ± 22.71) and minimum in dairy breed, Sahiwal (24.62 ± 11.03). The mean ROH length was maximum in Vechur (6.97 Mb) and minimum in Hariana (4.04 Mb). Kangayam revealed the highest ROH based inbreeding (F ROH> 1Mb = 0.113 ± 0.059), whereas Hariana (F ROH> 1Mb = 0.042 ± 0.031) and Sahiwal (F ROH> 1Mb = 0.043 ± 0.048) showed the lowest. The high standard deviation observed in each breed highlights a considerable variability in autozygosity. Out of the total autozygous segments observed in each breed except Vechur, > 80% were of short length (< 8 Mb) and contributed almost 50% of the genome proportion under ROH. However, in Vechur cattle, long ROH contributed 75% of the genome proportion under ROH. ROH patterns revealed Hariana and Sahiwal breeds as less consanguineous, while recent inbreeding was apparent in Vechur. Maximum autozygosity observed in Kangayam is attributable to both recent and ancient inbreeding. The ROH islands were harbouring higher proportion of QTLs for production traits (20.68% vs. 14.64%; P≤ 0.05) but lower for reproductive traits (11.49% vs. 15.76%; P≤ 0.05) in dairy breeds compared to draft breed. In draft cattle, genes associated with resistant to diseases/higher immunity (LYZL1, SVIL, and GPX4) and stress tolerant (CCT4) were identified in ROH islands; while in dairy breeds, for milk production (PTGFR, CSN1S1, CSN2, CSN1S2, and CSN3). Significant difference in ROH islands among large and short statured breeds was observed at chromosome 3 and 5 involving genes like PTGFR and HMGA2 responsible for milk production and stature, respectively. PCA analysis on consensus ROH regions revealed distinct clustering of dairy, draft and short stature cattle breeds.
The present study was undertaken to determine the pattern and incidence of predictable lymphatic spread and skip metastasis in oral cancer and analyze the prognostic implications of different therapeutic modalities in the neck metastases. The study includes 81 patients with squamous cell carcinoma of oral cavity with T1-2N0M0 and T1-3N1-3M0 who were admitted to the Department of ENT and Head and Neck Surgery, SMS Medical College and Hospital, Jaipur, from June 2006 to May 2008. After complete diagnostic evaluation (imaging, FNAC), all these patients were operated (wide primary excision with SOHND/Extended SOHND/MRD-I) and followed up periodically till date. Occult metastasis was found in 26% of the patients. Level I, II, III was most commonly involved. We did not find any metastasis or recurrence at level IV in N0 cases. Involvement of level IV node in N0 and N+ neck were 0 and 9%, respectively. We did not find any "skip metastasis" at level IV in oral cancers. We concluded that SOHND for N0 and MRND type I for N+ neck for oral cancers is an appropriate treatment.
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