POPULATION DATA Development of the Kazakhstan Y-chromosome haplotype reference database: analysis of 27 Y-STR in Kazakh population Maxat Zhabagin 1 & Aliya Sarkytbayeva 1 & Inkar Tazhigulova 2 & Dauren Yerezhepov 1 & Svetlana Li 2 & Rakhmetolla Akilzhanov 3 & Alibek Yeralinov 4 & Zhaxylyk Sabitov 5 & Ainur Akilzhanova 1 Received: 12 March 2018 /Accepted: 11 May 2018 # Springer-Verlag GmbH Germany, part of Springer Nature 2018 Abstract To improve available databases of forensic interest, all Y-STR haplotypes from Kazakh population were presented in this study. The reference database accumulated almost 3650 samples from academic and citizen science. Additionally, 27 Y-STR from Yfiler Plus System were first analyzed in 300 males from Kazakh (Qazaq) populations residing in Kazakhstan. The data is available in the YHDR under accession numbers YA004316 and YA004322. A total of 270 unique haplotypes were observed. Discrimination capacity was 90%. Obtained Y-STR haplotypes exhibited a high intra-population diversity. Analysis of pairwise genetic distances showed lowest R ST values from Uighur and Mongolian populations. Keywords Central Asia . Kazakh . Y chromosome . YHRD . Forensic . Population genetics . STR The short tandem repeat (STR) of Y chromosome is widely used to analyze both forensic cases [1] and genetic genealogy [2]. To achieve high discrimination power, a number of mul- tiplex Y-STR genotyping systems have been developed re- cently. The most famous of these are PowerPlex Y23 [3] and Yfiler Plus [4]. Currently, genetic polymorphisms of dis- tinct populations from a wide range of countries and from various parts of the world have been investigated utilizing these systems [5–8]. The data of Y-STR haplotypes distribu- tions is increasing annually in the Y Chromosome Haplotype Reference Database [9]. Nevertheless, the amount of data on Y-short tandem repeat loci for the Kazakh population from Kazakhstan is small. National Database BKazakhstan^ of YHRD consists of 441 MH (minimal haplotypes) or 207 Yfiler haplotypes, including only 41 Yfiler Plus haplotypes (YA004185). Knowledge of haplotype diversity is important in the construction of databases and interpretation of the sig- nificance of DNA-based forensic evidence. Our objective was to provide additional information on these 27 YSTR loci in the Kazakh population and to contribute to the development of domestic reference database. Kazakhstan is the largest country in the Central Asia and home to over 18 million people. Native Kazakh (Qazaq) people are patrilocal and patrilineal population (12 million; http://stat. gov.kz, accessed 01/01/2017). Kazakh population is an admixture of Eastern (70%) and Western (30%) anthropological traits. Western peculiarities are archaic and can be traced back to the Bronze Age people of Kazakhstan [10]. The Kazakh Khanate arose in the fifteenth century after the fall of the Golden Horde. Nomadic cultures from Turkic tribes who lived on the Central Asian steppe became the core of Kazakh culture [11]. Kazakhs belong to the Kipchak Turkic language family [12] and are organized into descent groups whose members claim to have a distinctive common ancestor [13]. Nowadays, genetic studies of Y chromosome on Kazakh population from Kazakhstan are limited. The short tandem repeat data has been obtained predominantly by the 17 Y- Electronic supplementary material The online version of this article (https://doi.org/10.1007/s00414-018-1859-8) contains supplementary material, which is available to authorized users. * Maxat Zhabagin mzhabagin@gmail.com 1 National Laboratory Astana, Nazarbayev University, Astana, Republic of Kazakhstan 2 Сentre of Forensic Expertise of the Ministry of Justice of the Republic of Kazakhstan, Astana, Kazakhstan 3 S.Toraighyrov Pavlodar State University, Pavlodar, Republic of Kazakhstan 4 Ministry of Internal Affairs of the Republic of Kazakhstan, Astana, Kazakhstan 5 L.N.Gumilyov Eurasian National University, Astana, Republic of Kazakhstan International Journal of Legal Medicine https://doi.org/10.1007/s00414-018-1859-8