HLA diversity in the Russian population assessed by next generation sequencing

Next generation sequencing is used to determine full-length sequences of HLA genes at the 4-field (allelic) resolution. The study was aimed at determining frequency and diversity of HLA alleles in a cohort of blood donors from the Registry of the National Research Center for Hematology who design ated themselves as Russians (including some not routinely typed variations in HLA gene regions). The studied population consisted of 1510 donors. HLA typing was performed by next generation sequencing. Libraries were performed with AllType NGS Amplification Kits (One Lambda, USA) and sequenced using MiSeq (Illumina, USA). Data analysis used the TypeStream Visual Software V2.0.0.68 (One Lambda, USA) and IPD-IMGT/HLA database 3.40.0.1. Arlequin 3.5 software was used for estimation of allele and haplotype frequencies, deviation from Hardy-Weinberg equilibrium. 82 HLA-A, 156 HLA-В and 85 HLA-С alleles were identified with four-field resolution. 45 HLA-DRB1 and 18 HLA-DQB1 alleles were identified with 2-3-field resolution. Considerable HLA diversity was found among the donors self-designated as Russians: the population had large numbers of distinct alleles at each HLA gene, high percentage of alleles (25-32% of HLA class I) were revealed only once. Sufficient numbers of new alleles were registered which are absent in the IPD-IMGT/HLA database. Considerable allelic diversity in Russian population is due to low-incidence alleles. Despite this diversity, the majority of HLA alleles detected at each locus were common. Significant HLA diversity of the donors was connected with a large number of alleles with rare occurrence. The novel alleles identified in our study differed from the known alleles by single nucleotide substitutions. The most common alleles at the four-field level were as follows: A*02:01:01:01 (27.1%), C*07:02:01:03 (13.1%), A*03:01:01:01 (13.0%), B*07:02:01:01 (13.0%), A*01:01:01:01 (11.6%) and C*07:01:01:01/16 (10.4%). The HLA alleles, which are common for Russian populations, are not always common or well-documented alleles in present catalogues. The data obtained in this study may be used as a reference sample for estimation of HLA allele frequencies in Russian population, for proper frequency evaluation of specific alleles when searching donors for allogeneic hematopoietic stem cell transplantation, as well as for association studies between HLA alleles and different diseases, and for research in population genetics

Başkortostan Cumhuriyeti Toratau Jeoparki bal arısı (apis mellifera) popülasyonunda tergit rengi değişimi

A phenetic analysis of the honey bee population of the Toratau Geopark (Russia) was performed. Over 1,000 worker and drone bee samples were collected from 250 colonies in 59 apiaries on the territory of the Toratau Geopark (Gafuriysky, Ishimbaysky, Meleuzovsky, and Sterlitamaksky districts of the Republic of Bashkortostan). Six phenes in worker bees and four phenes in drone bees were recognized. The phenes E, 1R, 2R, and 3R in workers and Is, I, and O-gray in drones were predominant in the honey bee population of the Toratau Geopark, which were associated with subspecies of the Clineage. These phenes can be used as indicators of introgressive hybridization in the local dark European honey bee population. The phenes allow for quick evaluation of certain honey bee colonies hybridization states.Toratau Jeoparkı'ndaki (Rusya) bal arısı popülasyonunun fenetik analizi yapılmıştır. Toratau Jeoparkı topraklarındaki (Başkurdistan Cumhuriyeti'nin Gafuriysky, Ishimbaysky, Meleuzovsky ve Sterlitamaksky bölgeleri) 59 arılıktaki 250 koloniden 1.000'den fazla işçi ve erkek arı örneği toplanmıştır. İşçi arılarda altı fen ve erkek arılarda dört tergit rengi tespit edilmiştir. İşçilerde E, 1R, 2R ve 3R ve erkek arılarda Is, I ve O-gri fenleri Toratau Jeoparkı'ndaki bal arısı popülasyonunda baskındı ve bunlar C soyunun alt türleriyle ilişkiliydi. Bu tergit rengi, yerel koyu Avrupa bal arısı popülasyonunda içsel melezleşmenin göstergeleri olarak kullanılabilir. Bu tergit renkleri, belirli bal arısı kolonilerinin melezleşme durumlarının hızlı bir şekilde değerlendirilmesine olanak sağlamaktadır.The article was prepared with supporting the grant of the head of the Republic of Bashkortostan Radiy Khabirov, grant title "Study of the Bashkir bee population on the territory of the Toratau Geopark