Combined Probability Of Exclusion Research Articles

Parentage Determination of Chinese Hooksnout Carp (Opsariichthys bidens) Based on Microsatellite DNA Markers

In this study, a panel of 14 microsatellite markers was screened to determine the parentage of 144 progenies in 12 Chinese hooksnout carp (Opsariichthys bidens) full-sib families. The combined exclusion probabilities for 14 loci were 97.6% and 99.9%, respectively, when there was no available parent information or only one parent information was provided. Simulation analysis demonstrated that the power of five loci to exclude false parents exceeded 99.0%, while that of eight loci reached 99.9% based on allele frequency data obtained from full-sib families (168 individuals). Moreover, the cumulative assignment success rate reached 100% with known parental and filial information when utilizing 13 or more loci, even in cases where no parent information was available. The results showed that this set of microsatellite markers proved to be a reliable and efficient tool for parentage determination of O. bidens.

Development and parentage analysis of SNP markers for Chestnut-vented Nuthatch (Sitta nagaensis) based on ddRAD-seq data

Extra-pair paternity (EPP) is commonly found in socially monogamous birds, especially in small passerine birds, and there are interspecific and intraspecific variations in the extent of EPP. The Chestnut-vented Nuthatch (Sitta nagaensis) is a socially monogamous passerine bird, and verifying whether this species has EPP relies on parentage testing—S. nagaensis is not known to have EPP. In this study, we developed SNP markers of this species that are informative for parentage analysis from double digest restriction site-associated DNA sequencing (ddRAD-seq) data. A panel consisting of 50 SNP markers, with a mean heterozygosity of 0.343, was used to resolve 95% of nestlings to fathers. The combined exclusion probabilities for the first parent and second parent were 0.991 and 0.9999, respectively. This panel of SNP markers is a powerful tool for parentage assignments in S. nagaensis. In addition, we found that three offspring (7.9%) from three nests (23.1%) were the result of extra-pair fertilization out of 38 offspring in 13 nests. Our study provided information on parentage analysis that has not been reported before in S. nagaensis. It also supplemented the understudied EPP behavior of birds in Asia, contributing to a general understanding of the EPP behaviors of birds.

Exploring the genetic landscape of the Doukkala population (Morocco) using 15 autosomal short tandem repeats (STRs)

Introduction/ObjectivesSituated in West Central Morocco, the Doukkala region carries the distinction of being one of North Africa's oldest human settlement zones. Nonetheless, it has been notably understudied in the realm of population genetics. Through allele frequency analysis and integration of forensic parameters, the research aims to gain insights into the genetic structure and neighboring affiliations of the Doukkala population. MethodsThis study employed the AmpFlSTR Identifiler PCR system to assess the allelic frequencies and forensic parameters of 15 autosomal STRs in a cohort of 134 unrelated, healthy individuals from the Doukkala region who identify as Arab-speakers. Additionally, we explored the genetic relationships between the Doukkala population and other reference groups, considering both our dataset and previously published population data. ResultsA total of 180 alleles were observed in the study population. With a count of 19 alleles, D18S51 proved to be the most diverse marker in the study. After Bonferroni's correction, 3 loci (FGA, TH01, and TPOX) deviated from Hardy–Weinberg equilibrium. The combined power of discrimination (PD) was 0.99999999999999999526 and the combined probability of exclusion (PE) was 0.99999664790900144592. The Arabic-speaking population of Rabat-Salé–Zemmour-Zaer and Southern population from Morocco exhibit the shortest genetic distance from population of Doukkala. No significant difference was observed between the Arabic-speaking population of Doukkala and all North African populations at all loci, except for the Egyptian population (North-East Africa), where a difference was observed at 2 specific loci (CSF1PO and TH01). ConclusionsThese results indicate that the diversity found in populations from North Africa transcends geographic and linguistic barriers. The dataset's relevance to this research could stem from its capacity to offer valuable reference data for forensic, anthropological, and genetic investigations.

Genetic evidence for variability in the social mating system of the Midday Gerbil (Meriones meridianus)

Abstract Social mating systems (e.g., monogamy, polygamy, or polyandry) are relatively stable behavioral strategies developed by environmental in animals, but the genetic imprint of a particular mating system is often incongruent with the social mating system due to extrapair matings. However, the genetics of mating systems remain little understood in rodents. In this study, we investigated the genetic signature of the mating system of 141 (63 females, 78 males) field-captured midday gerbils (Meriones meridianus)—a rodent species commonly found in the Minqin Desert in China—through microsatellite site analyses of genetic structure and relatedness. Seven pairs of highly polymorphic microsatellite loci were selected and were highly polymorphic, with the combined exclusion probability greater than 0.99. The parent pair paternity test by Cervus 3.0 software show that 11 mother–offspring and nine father–offspring relationships were identified in 2018, involving 26 individuals from 10 families. Similarly, 19 mother–offspring and 19 father–offspring relationships were identified in 2019, involving 48 individuals from 18 families. All three types of genetic mating structure were identified—monogamy (19 families), polyandry (4 families), and polygyny (5 families), providing evidence that the genetics underlying mating systems in this species are variable, can be incongruent with behavioral evidence for social mating systems, and could vary based on environmental cues, including degree of perceived or actual predation.

Verification of pedigree information with paternity testing in Karacabey Merino sheep.

Complex tests of DNA sequences, genetic research, and the use of specific DNA polymorphisms as genetic markers have all advanced rapidly in recent years. It is widely used in DNA-based parental testing. Therefore, it has replaced the blood types routinely used in pedigree tests. The study aimed to evaluate the 14 microsatellite loci in the study in terms of paternity test parameters and to investigate the usability of the relevant loci in determining the parentage of the Karacabey Merino breed. In this study, paternity testing was performed on 5 rams of the Karacabey Merino breed and their probable 98 offspring using 14 microsatellite loci. A total of 290 alleles were observed in the study. The observed heterozygosity ratio (Ho) based on loci was between 0.82 and 0.98, and the expected heterozygosity ratio (He) was between 0.87 and 0.93. Individual exclusion probability (PE) values for the loci were calculated to be between 0.596 and 0.761, with combined exclusion probability (CPE) values of 0.99999995. According to the results of the study, paternity tests using 14 microsatellite markers in Karacabey Merino sheep can be used with high accuracy.

Development of a multiplex panel with 36 insertion/deletion markers (InDel) for individual identification.

In recent years, the insertion/deletion (InDel) polymorphism has become a preferred genetic marker in forensic genetics due to its low mutation rates and small amplicon sizes. In this study, a 36-InDelplex identification panel, consisting of autosomal 34 InDel loci, 1 Y InDel locus, and amelogenin, was developed, and gene frequencies in the Turkish population were determined. The loci of the InDel panel with global minimum allele frequencies (MAF) ≥ 0.4 were selected from the 1000 Genomes Project Phase 3 data. The amplicon sizes of the loci were designed in the range of 69-252 bp. In the validation study of the developed panel, analysis threshold, dynamic range, sensitivity, stochastic threshold, inhibitor tolerance, and reproducibility parameters were studied by following the Scientific Working Group on DNA Analysis Methods (SWGDAM) guidelines. The sensitivity studies indicated that complete and reliable InDel profiles could be obtained with 0.25 ng of DNA. A population study was evaluated using 250 samples from Turkey. The mean observed heterozygosity ratio (Ho) of all loci was 0.48. The combined discrimination power (CPD) is 0.999999999990867 and the combined exclusion probability (CPE) was 0.9930. The population comparison was also made using Turkish and the five major populations from the 1000 Genomes Phase 3 populations' data (Africa, Europe, East Asia, South Asia, and America). In conclusion, the results showed that the 36-InDelplex panel is a reliable, sensitive, and accurate system that is suitable for human identification and population genetics purposes.

Genetic polymorphisms and population genetic analyses of 57 autosomal InDel loci in Hubei Tujia group.

Introduction: The Tujia is the eighth most populous population in China, but its genetic structure has not been fully studied. Methods: In this study, we utilized 57 autosomal Insertion/deletion (InDel) loci to evaluate the genetic polymorphisms and efficiency of forensic applications in the Chinese Hubei Tujia group, and analyzed the genetic structure variances among the studied group and other 26 different reference populations from five continents in 1000 Genomes Project (1KG). Results: The results showed that 57 InDels have no significant deviations from Hardy-Weinberg equilibrium and linkage equilibrium. The combined power of discrimination (CPD) and the combined probability of exclusion (CPE) values for 57 InDels were 0.99999999999999999999999699822 and 0.999975177214539 in the Hubei Tujia group, respectively. In addition, the results of genetic structure analyses indicated that the Hubei Tujia group has close genetic relationships with the Chinese Han population and other East Asian populations. Discussion: These 57 autosomal InDels can be used as reliable tools for forensic individual identification and paternity testing, and are more suitable for East Asian populations. Furthermore, three InDels (rs72085595, rs145941537, and rs34529639) are promising for inferring ancestral information.

Universal Panel of Insertion/Deletion Polymorphisms and Biochip-Based Kit ChipID106 for Genetic Personal Identification

A panel of 106 insertion/deletion (InDel) polymorphisms and a method of their genotyping on biochips were proposed as a new approach to genetic personal identification. Short lengths and low mutation rates are basic properties of InDel markers, which thus have significant advantages over short tandem repeats (STRs) widely used in forensics. The allele frequency distributions of all known InDel polymorphisms were studied in the five largest world populations (European, East Asian, South Asian, African, and American). Markers were selected to meet the following criteria: the minor allele frequency (MAF) is higher than 0.30; the physical distance between markers is greater than 3 Mb; there are no polymorphisms, tandem repeats, and palindromes in the flanking sequences; the AT/GC ratio is close to 1. A panel of 106 polymorphisms was thus formed; the average MAF was estimated at 0.396 in the five populations. The method developed for panel genotyping included one-step multiplex PCR and subsequent hybridization on a biological microarray. The average amplicon length was 72 bp. A sample of 201 residents of Moscow and St. Petersburg was tested to determine the main characteristics of the panel: the random matching probability (MP) was 1.89x 10^(-43) and the combined probability of paternity exclusion (CPE) was 0.99999999063. The method provides an alternative to molecular genetic personal identification based on the STR length variations.

Exploring the forensic effectiveness and population genetic differentiation by self-constructed 41 multi-InDel panel in Yunnan Zhuang group

Yunnan is one of the main residences of the Zhuang group which is one of the 55 ethnic minorities in China. At present, there are relatively few researches on population genetics and forensic science of the Yunnan Zhuang group. Therefore, this study used a self-constructed panel containing 41 multi-InDel markers to analyze the genetic polymorphisms of 173 individuals from Yunnan Zhuang group. The results indicated that these 41 multi-InDels in Yunnan Zhuang group were highly polymorphic markers expect for three markers. The cumulative match probability and combined exclusion probability values of the 40 multi-InDels (MI38 marker was excluded) were 8.0671E-26 and 0.9999995959, respectively. In addition, population genetic analyses were performed on genotyping data of 41 multi-InDel markers among the Yunnan Zhuang and 26 reference populations, revealing that the Yunnan Zhuang group was genetically close to the five populations in East Asia. According to the STRUCTURE analysis, the Yunnan Zhuang group presented similar ancestral compositions to the five populations from East Asia, and when the K value was three, the five intercontinental populations showed their different genetic structures. In conclusion, the 41 multi-InDel markers could be used as an effective tool for individual identification and paternity testing of the Zhuang group in Yunnan province, as well as for their ancestry information inference studies.

Forensic efficiencies of individual identification, kinship testing and ancestral inference in three Yunnan groups based on a self-developed multiple DIP panel.

Deletion/insertion polymorphism (DIP), as a short insertion/deletion sequence polymorphic genetic marker, has attracted the attention of forensic genetic scientist due to its lack of stutter, short amplicon and abundant ancestral information. In this study, based on a self-developed 43 autosomal deletion/insertion polymorphism (A-DIP) loci panel which could meet the forensic application purposes of individual identification, kinship testing and ancestral inference to some extent, we evaluated the forensic efficiencies of the above three forensic objectives in Chinese Yi, Hani and Miao groups of Yunnan province. The cumulative match probability (CPM) and combined probability of exclusion (CPE) of these three groups were 1.11433E-18, 8.24299E-19, 4.21721E-18; 0.999610217, 0.999629285 and 0.999582084, respectively. Average 96.65% full sibling pairs could be identified from unrelated individual pairs (as likelihood ratios > 1) using this DIP panel, whereas the average false positive rate was 3.69% in three target Yunnan groups. With the biogeographical ancestor prediction models constructed by extreme gradient boosting (XGBoost) and support vector machine (SVM) algorithms, 0.8239 (95% CI 0.7984, 0.8474) of the unrelated individuals could be correctly divided according to the continental origins based on the 43 A-DIPs which were large frequency distribution differentiations among different continental populations. The present results of principal component analysis (PCA), multidimensional scaling (MDS), neighbor joining (NJ) and maximum likelihood (ML) phylogenetic trees and STRUCTURE analyses indicated that these three Yunnan groups had relatively close genetic distances with East Asian populations.

Developing microsatellite duplex PCR reactions for sterlet (Acipenser ruthenus) and their application in parentage identification

The sterlet (Acipenser ruthenus) is one of the 27 sturgeon species and is well-known for its wide distribution and small body size in comparison to other sturgeons. For assessing the population genetics and parentage identification of sterlet, ten microsatellites developed for Chinese sturgeon and cross-amplified in sterlet were tested by 40 individuals of sterlet. The ten microsatellites were developed using transcriptome sequencing of Chinese sturgeon. The expected heterozygosity (HE), observed heterozygosity (HO), Shannon-Weiner diversity indices (H′) and polymorphic information content (PIC) of the 10 microsatellites ranged from 0.466 to 0.751, from 0.438 to 0.938, from 0.66 to 1.51 and from 0.368 to 0.716, respectively. Combined exclusion probability based on the genotype of pair parent known (CE-PP), one parent known (CE-2P), and no parent known (CE-1P) of the 10 microsatellites were 99.99%, 99.96%, and 99.49%, respectively. These result showed that the 10 microsatellites should be helpful for assessing the population genetics and parentage identification of sterlet.

A new set of 20 Multi-InDel markers for forensic application.

Insertion/deletion markers (InDels) become an important marker for forensic medicine because of their compatible typing techniques with STRs and lower mutation rates. Recent years, a new kind of DNA marker named Multi-InDel was reported as characterized by two or more tightly linked InDel loci within a short length of physical position, usually 200-300 nucleotides. Many pieces of research showed that Multi-InDels had excellent application values in ancestry inference and forensic medicine. Since the identical number of insertion/deletion nucleotides of the InDel markers that composing the Multi-InDel marker, the genotypes of most reported Multi-InDels could not be directly typed by capillary electrophoresis (CE) due to the lack of length discrepancy among the composing InDel sequence. In this study, we applied a typing system of 20 Multi-InDels including 41 InDels, whose genotypes could be deduced by CE and assessed their potential applications in forensic medicine. A total of 200 unrelated Chinese Han individuals and five mother-child-father trios with proven paternity with one STR locus transmission incompatibilities from Shanxi province were genotyped by the multiplex system. The results showed that a total of 70 specific alleles were observed, more than three alleles were observed in 19 loci and seven alleles were observed in one locus. The combined probability of exclusion and the combined power of discrimination were 0.992 and 0.99999999993, respectively. This study demonstrates their potential usefulness for individual identification and paternity tests. The development of Multi-InDels provided another genetic tool inherent in higher polymorphic and lower mutation rates.

Genetic study with 21 autosomal STRs in five Peruvian macro regions for human identification purposes

In this population study 1541 samples in total were collected and analyzed. The samples were collected from five jurisdictions: North macro region (n = 272), Central macro region (n = 404), South macro region (n = 272), East macro region (n = 197), and the Lima macro region (n = 396). The samples were analyzed using the Investigator 24 plex GO and Investigator 24 plex QS kits which enable typing of 21 autosomal STR loci and an amelogenin marker for sex determination. The combined power of discrimination and the combined probability of exclusion for the total population were 0.9999999999 and 0.99999978, respectively. These population geographic subgroupings are similar, supporting that the combined Peruvian data or individual subgroupings could be used for generating statistics in forensic casework.

Polymorphic investigation and interpopulation genetic differentiation analyses of 20 STR loci in Inner Mongolia Han population

IntroductionInvestigating the forensic genetic features and providing basic population data of Han population are of great significance. Materials & methodsHence, we focused on the Han population in Inner Mongolia Autonomous Region of China, and simultaneously calculated the allelic frequencies as well as forensic statistical parameters of the 20 autosomal STRs based on the genotype results from 455 unrelated individuals. ResultsStatistical analysis results indicated that no significant departures were observed from Hardy-Weinberg equilibrium tests at 20 STRs except locus D19S433. The range of allelic frequencies in the studied loci was from 0.0011 to 0.5187. The locus Penta E with most allelic numbers was observed as the most polymorphic locus with the highest values of discrimination power and polymorphic information content. Subsequently, the combined power of discrimination and combined probability of exclusion were calculated to be 0.99999999999999999999999 and 0.999999996 in Inner Mongolia Han population, respectively. In addition, interpopulation genetic affinities between the Han population and 12 reference groups were performed via different statistical analyses. ConclusionPhylogenetic analysis, principal component analysis as well as population structure analysis indicated that the studied Han population shared intimate genetic relationships to Yunnan Han population.

Transferability and characterization of microsatellite markers from Byrsonima cydoniifolia A. Juss. (MALPIGHIACEAE) in seven related taxa from Cerrado biome reveal genetic relationships.

Byrsonima Rich. is one of the largest genera of the Malpighiaceae family with 97 species occurrence in Brazil and multiple potentialities, including pharmaceutical and food industries. In this study, 17 microsatellite markers characterized in Byrsonima cydoniifolia were tested for seven related taxa, all species are native to Brazil and four are endemic. Genomic DNA was extracted from leaves tissues and 17 microsatellite markers were used to cross-amplification of microsatellite regions. Polymorphism and genetic diversity were evaluated for B. intermedia, B. verbascifolia, B. laxiflora, B. subterranea, B. umbellata, B. linearifolia. from 16 individuals and for B. viminifolia from 14 individuals. Transferred microsatellite markers panels ranged from 11 (64.8%) in B. viminifolia to 6 (35.2%) in B. umbellata. The total number of alleles per locus ranged from 5 (B. linearifolia) to 8 (B. subterranea) alleles. B. umbellata showed lower values of observed and expected heterozygosity (HO = 0.312; HE = 0.436) and B. subterranea presented the highest values (HO = 0.687; HE = 0.778). A greater number of microsatellite markers should be developed for B. umbellata. The microsatellite marker panels transferred to the species B. intermedia, B. verbascifolia, B. laxiflora, B. subterranea, B. viminifolia and B. linearifolia are very informative, with a high combined probability of exclusion of paternity (Q ≥ 0.976) and the low combined probability of identity (I ≤ 9.91 × 10-6), potentially suitable for future genetic-population studies, supporting strategies for maintaining the genetic diversity and for exploration of Byrsonima species as genetic resources.

Development of a multiplex microsatellite assay for parentage assignment in orange‐spotted groupers (Epinephelus coioides)

AbstractEstablishment of reliable pedigree information of different lineages is crucial for selective breeding and stock enhancement programs. However, owing to the absence of a reliable assay for parentage assignment, such information is lacking in orange‐spotted grouper (Epinephelus coioides), which is an economically important coral‐reef fish. In this study, we developed two multiplex microsatellite polymerase chain reaction systems that consisted of 12 microsatellite markers (seven in system A and five in system B) for parentage assignment of orange‐spotted groupers. The theoretical exclusion probability per locus ranged from 0.079 to 0.436 when both parents were unknown (E‐1P) and from 0.191 to 0.614 when one parent was known (E‐2P). The combined exclusion probability values of 12 loci were 98.8% (E‐1P) and 100% (E‐2P), respectively. The accuracy of the parentage test for a mixed family (15 dams and 12 sires, 226 offspring) was 100%. In addition, two wild populations (79 individuals) were added as interferential offspring, only four of which were misassigned to the stock. The success rate of assignment was 98.69%. We provide a reliable microsatellite‐based assay for parentage assignment in orange‐spotted groupers, which will be useful for selective breeding and stock enhancement programs for this species and maybe other groupers.

Evaluation of the International Society forAnimal Genetics bovine single nucleotide polymorphism parentage panel in South African Bonsmara and Drakensberger cattle.

A panel of 200 single nucleotide polymorphisms (SNPs) have been recommended by the International Society for Animal Genetics (ISAG) for use in parentage verification of cattle. While the SNPs included on the ISAG panel are segregating in European Bos taurus and Bos indicus breeds, their applicability in South African (SA) Sanga cattle has never been evaluated. This study, therefore, assessed the usefulness of the ISAG panel in SA Bonsmara (BON) and Drakensberger (DRB) cattle. Genotypes of 185 ISAG SNPs from 64 BON and 97 DRB sire-offspring pairs were available, all of which were validated with 119,375 SNPs. Of the 185 ISAG SNPs, 14 and 18 in the BON and DRB, respectively (9 in common to both breeds), were either monomorphic, exhibited at least one discordance between validated sire-offspring pairs, or had poor call rate or clustering issue. The mean minor allele frequency of the 185 ISAG SNPs was 0.331 in the BON and 0.359 in the DRB. The combined probability of parentage exclusion (PE) was the same (99.46%) for both breeds, while the probability of identity varied from 1.61 × 10-48 (BON) to 1.11 × 10-54 (DRB). Fifteen (23.4%) and 32 (33%) of the already validated sire-offspring pairs for the BON and DRB, respectively, were determined by the ISAG panel to be false-negatives based on a threshold of having at least two discordant SNPs. In comparison to sire discovery using the 119,375 SNPs, sire discovery using only the ISAG panel identified correctly 44 (out of 64 identified using the 119,375 SNPs) unique sire-offspring BON pairs and 62 (out of 97 identified using the 119,375 SNPs) unique sire-offspring DRB when all sires were masked. Five BON and three DRB offspring had > 1 sire nominated. This study demonstrated that the use of the ISAG panel may result in incorrect exclusions and multiple candidate sires for a given animal. Selection of more informative SNPs is, therefore, necessary in the pursuit of a low-cost and effective SNP panel for indigenous cattle breeds in SA.

Genetic variation of 20 autosomal STR loci in the Han nationality in Central Yunnan, Southwest China.

A total of 20 autosomal short tandem repeat (STR) loci from 2220 unrelated healthy individuals of Han population living in the central area of Yunnan province, Southwest China were amplified with the PowerPlex® 21 System. After Hardy-Weinberg equilibrium examination, the allele frequencies and forensic statistical parameters of 20 STR loci were evaluated. A total of 298 alleles and 1225 genotypes were observed for all the 20 loci. The allele frequencies varied from 0.0002 to 0.5130. The combined power of discrimination and the combined probability of exclusion of all 20 STR loci were 0.99999999521565 and 0.999999999999999999999999637, respectively. Meanwhile, genetic distances between Central Yunnan Han and 17 previously published populations were compared and a neighbor-joining (NJ) phylogenetic tree was developed and visualized by using MEGA 7 based on Nei's standard genetic distance. The results demonstrated that these loci were highly polymorphic in the Han nationality in Central Yunnan, Southwest China and could be applied in forensic medicine and population genetics.

Development and characterization of microsatellite markers in Stryphnodendron adstringens (Leguminosae).

In this study, we report the development and characterization of 15 new microsatellite markers for Stryphnodendron adstringens (Leguminosae) in order to support future analyses of genetic diversity in populations of this species. In screening with 48 individuals from three different populations of S. adstringens, we tested the amplification of 20 microsatellite loci, of which five are not useful for population genetic studies due to the lack of polymorphisms or amplification failures. For the final set of 15 loci, the number of alleles ranged from 2 to 15, with a total of 116 alleles. The expected heterozygosity ranged from 0.1219 to 0.8965, with an average of 0.6694 per locus. The combined probability of genetic identity (PI = 8.12 × 10-15) and paternity exclusion (Q = 0.99999) estimations showed that the loci may be useful to discriminate between individuals of S. adstringens. Initial cross-amplification tests were satisfactory in three species of the genus Stryphnodendron: S. rotundifolium, S. coriaceum and S. polyphyllum. This new set of markers will be a useful tool for population genetic studies, contributing to the knowledge about the evolutionary history of S. adstringens and, additionally, correlated species.

Comprehensive analyses for genetic diversities of 19 autosomal STRs in Chinese Kazak group and its phylogenetic relationships with other continental populations

Short tandem repeats (STRs) play an essential role in forensic genetics due to their high degree of polymorphisms, wide distributions and easy detection method. In this study, allelic frequencies and forensic statistical parameters of the 19 autosomal STR loci in a Kazak ethnic group were calculated, and its genetic relationships with reference populations were assessed in order to understand population structure better and enrich population genetic data for forensic practice in Chinese Kazak ethnic group. There were 226 identified alleles with the corresponding allelic frequencies ranging from 0.0008 to 0.5295 in the 628 unrelated healthy Kazak individuals in Xinjiang Uygur Autonomous Region. All autosomal STRs were conformed to the Hardy-Weinberg equilibrium after Bonferroni’s correction. The cumulative power of discrimination and the combined probability of exclusion of all the 19 autosomal STRs were 0.999 999 999 999 999 999 999 997 162 and 0.999 999 994 484, respectively. Furthermore, the DA distances and Fixation index values of pairwise populations, principal component analysis, multidimensional scaling analysis, phylogenetic tree analysis and structure analysis were conducted to probe the genetic relationships between the Kazak group and other reference populations. The population genetic results showed that these 19 autosomal STR loci were characterised by high genetic diversities in the Kazak group. Furthermore, the studied Kazak group had close genetic relationships with the Uyghur group and the Uzbek group. The present results may facilitate understanding the genetic background of the Chinese Xinjiang Kazak group.