A total of 356 (217 bone marrow and 139 cord blood donors) Malayalam Speaking individuals (Keralites or Malayalis (Here not to be confused with Malayali tribes of Eastern ghats from South India)) from Kerala, Tamilnadu, Karnataka and Telangana were typed for HLA-A, -B, -C, -DRB and -DQB alleles. Out of 356 samples, 253 samples were typed by Sanger sequencing using SeCore Sequencing IVD® kit user protocol (Invitrogen) and the results detected on an automated ABI 3730xl DNA analyzer instrument. This article is protected by copyright. All rights reserved.

B:C:DRB1:DQB1 allele and haplotype frequencies were determined among Urdu speaking population from South India by Sanger and Next Generation Sequencing. Seventy bone marrow registry donors and 327 cord blood units from the Jeevan Stem Cell Foundation (part of Be The Cure Registry), Chennai, Tamilnadu were included in the study. No overall deviations from expected Hardy-Weinberg equilibrium proportions were observed at all the five loci studied. The most frequent HLA class I alleles observed in this population were A*11:01:01, B*40:06:01, and C*06:02:01, showing a frequency of 15.87%, 12.72%, and 13.22%, respectively. The most frequent class II alleles observed in this population were DRB1*07:01:01 (15.62%) and DQB1*06:01:01 (21.41%). The top ranked haplotype A*01:01:01~B*57:01:01~C*06:02:01~DRB1*07:01:01~DQB1*03:03:02 (2.77%) reported in the present study, was the highly frequent haplotype found in Telugu speaking population who lived in the same region.

Identification of the novel allele HLA‐B*40:379 carrying polymorphisms in an intron, exon and the 3′ untranslated region.

Forty novel HLA class I and class II alleles were identified in umbilical cord blood (UCB) samples and categorized based on various types of mutations: non‐synonymous, synonymous, frameshift, and premature termination codon. This study described 14 novel HLA‐A alleles, 9 novel HLA‐B alleles, 4 novel HLA‐C alleles, 3 novel HLA‐DRB1 alleles and 10 novel HLA‐DQB1 alleles. Comparing the new allele sequence with the most homologous sequence, 60% of the novel alleles exhibited non‐synonymous substitution, 32.5% observed with synonymous substitution, 5% displayed premature stop codon, and 2.5% presented with frameshift mutation. The majority of the new alleles contained a single nucleotide variation when compared with the most similar sequence.

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