Search Results (505)

Drought severely threatens wheat production. Under drought conditions, root system architecture (DRSA)-related traits in common wheat significantly affect wheat production. In China, Zhoumai16 is a high-yield winter wheat variety in the Huang-Huai wheat region. It is suitable for high-fertilizer and high-water cultivation and has moderate drought tolerance. DK171 is a newly developed high-yield and stress-tolerant variety, with higher drought tolerance. Thus, identifying genetic loci associated with DRSA-related traits from DK171 and developing available molecular markers are of great importance for enhancing wheat stress tolerance breeding. In this study, DRSA-related traits, including the total root dry weight (DDRW), total root length (DTRL), total root area (DTRA), and the number of root tips (DNRT) under drought stress, were assessed using the hydroponic system in Zhoumai16/DK171 recombinant inbred lines (RIL) population. A total of five quantitative trait loci (QTL) for DRSA-related traits were identified, e.g., QDDRW.daas-1BL, QDTRS.daas-4AL, QDNRT.daas-4DS, QDTRL.daas-3AL, and QDDRW.daas-5D, and explained 6.1% to 18.9% of the phenotypic variances, respectively. Among these, QDTRS.daas-4AL and QDTRL.daas-3AL were consistent with previous reports, whereas the QDDRW.daas-1BL, QDNRT.daas-4DS, and QDDRW.daas-5D are novel. The favorable alleles of QDTRS.daas-4AL and QDNRT.daas-4DS were inherited from Zhoumai16, whereas the favorable alleles for QDDRW.daas-1BL, QDTRL.daas-3AL, and QDDRW.daas-5D were contributed by DK171. Furthermore, five kompetitive allele-specific PCR (KASP) markers, Kasp_1BL_DTRS (QDDRW.daas-1BL), Kasp_3AL_DTRS (QDTRL.daas-3AL), Kasp_4A_DTRS (QDTRA.daas-4A), Kasp_5D_DDRW (QDDRW.daas-5D), and Kasp_4D_DNRT (QDNRT.daas-4D), were developed and validated in a diverse panel with 108 wheat varieties mainly from China. Additionally, eight candidate genes related to plant hormone regulation, ABC transporters, and calcium-dependent lipid-binding domain proteins were identified. This study offers new loci, candidate genes, and available KASP markers for wheat drought tolerance breeding and facilitating progress in developing drought-tolerant wheat cultivars. Full article

Background: High-temperature stress is one of the major abiotic stresses limiting cotton production. Identifying genetic loci and genes for heat tolerance is crucial for breeding heat-tolerant varieties. Methods: Given the complexity of heat tolerance phenotypes in cotton, this study, which focused on resource materials, identified an A/C SNP mutation at position 5486185 on chromosome D06 within the heat tolerance interval through genome-wide association studies (GWAS) of natural Gossypium hirsutum populations. Results: A total of 308 resource materials were identified and evaluated for their heat tolerance phenotypes over two years of field research. Kompetitive allele-specific PCR (KASP) molecular markers were developed on the basis of the D06-5486185 SNP to characterize the heat tolerance phenotypes of these 308 resource materials. Genotyping for heat tolerance-related traits and agronomic traits was also performed. Materials with the C/C haplotype at position D06-5486185 presented increased heat tolerance (higher pollen viability (PV), leaf area (LA), chlorophyll (Chl) and number of bolls on the third fruit branch (FB3) and a lower number of dry buds (DBs) and drop rate (DR)) without negatively impacting key yield traits. This locus is located in the intergenic region of two adjacent bZIP transcription factor genes (GH_D06G0408 and GH_D06G0409). Expression analysis revealed that the expression levels of these two genes were significantly greater in heat-tolerant accessions (C/C type) than in sensitive accessions and that their expression levels were significantly correlated with multiple heat-tolerant phenotypes. Conclusions: In summary, this study developed a Kompetitive Allele Specific PCR (KASP) marker associated with heat tolerance in G. hirsutum and identified two key heat tolerance candidate genes. These results provide an efficient marker selection tool and important genetic resources for the molecular breeding of heat-tolerant G. hirsutum, laying an important foundation for further establishing a molecular marker-assisted breeding system for heat tolerance in G. hirsutum. Full article

Background: Amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) are recognized as a spectrum of neurodegenerative disorders with overlapping clinical, pathological, and genetic features. The identification of C9orf72 hexanucleotide repeat expansion as the most common genetic cause of both conditions has prompted further investigation of genetic modifiers that may contribute to disease heterogeneity. We aimed to analyze the frequency of C9orf72 repeat expansions and potential modifying roles of APOE, ATXN1, and ATXN2 in Serbian ALS/FTD patients. Methods: Our study included an ALS/FTD cohort (n = 22) and healthy controls (n = 94). Repeat sizing in C9orf72, ATXN1 and ATXN2 was performed by fluorescent polymerase chain reaction (PCR) and capillary electrophoresis, while repeat-primed PCR was used to confirm C9orf72 expansions. APOE genotyping was conducted using real-time PCR assays targeting SNPs rs429358 and rs7412. Results: In the ALS/FTD cohort, 31.82% of the patients had heterozygous C9orf72 repeat expansion. The most common APOE genotype among patients was ε3/ε3 (72.73%). Intermediate-length ATXN1 alleles (32–44 repeats) were detected in 13.64% of patients and ATXN2 intermediate-length alleles (27–33 repeats) were found in 9% of patients. No significant differences were observed between ALS/FTD patients and controls in APOE ε4 frequency or intermediate ATXN1/ATXN2 repeats. Conclusions: Larger, population-specific studies and meta-analyses are needed to better understand the role of genetic modifiers in ALS/FTD pathogenesis and their influence on clinical heterogeneity. By integrating genetic and clinical data, this study represents a step toward the development of precision medicine strategies for ALS/FTD. Full article

Introduction: For pregnant women with a history of fetal and neonatal alloimmune thrombocytopenia (FNAIT) or hemolytic disease of the fetus and newborn (HDFN), prenatal intervention in subsequent pregnancies may be necessary to prevent complications for the fetus. A non-invasive prenatal diagnostic procedure (NIPD) is recommended for fetal blood group genotyping. RT-PCR is used for fetal RHD determination as a reliable screening method with high sensitivity and specificity. For other antigens with variants involving single-base substitutions, droplet digital PCR (ddPCR) and next-generation sequencing (NGS) are recommended to reduce the risk of false-negative results. Only NGS offers the possibility of determining the cell-free fetal DNA (cffDNA) fraction in maternal plasma by sequencing additional gene fragments in parallel, but no standard exists for assay validation. Material and Methods: A custom-made primer panel was designed to target the common platelet and red cell antigens involved in fetal red cell and platelet incompatibilities, as well as additional anonymous single-nucleotide polymorphism (SNP) targets for use as an internal control. Amplicon-based NGS was carried out using semiconductor sequencing. For HPA-1a (HPA*1A, ITGB3) and K (KEL*01.01, KEL) assay validation, the limit of detection (LOD) and limit of quantification (LOQ) were estimated, as were false-positive antithetic alleles, linearity, and inter-assay variation, using cell-free DNA (cfDNA) extracted from the blood samples of healthy blood donors. An additional analysis was performed using 23 diagnostic samples from 21 pregnant women. Results: Regression analysis of dilution series using HPA-1a- and K-positive cell-free plasma samples in antigen-negative donor plasma showed that recovery is definitely feasible up to an HPA*1A and KEL*01.01 allele frequency of 1%. Base calls of false-positive antithetic alleles were detected with a maximum of 0.25% using 21 healthy blood donors. The LOD was estimated to be 0.2057% (mean + 3 SD) for HPA*1A with a LOQ of 0.6298% (mean + 10 SD). For KEL*01.01, the LOD was 0.1706% (mean + 3 SD) and the LOQ was 0.5314% (mean + 10 SD). The analysis of 15 of 21 cases with diagnostic samples from pregnant women with neonatal blood available for confirmatory testing resulted in 100% concordant results. The fetal fraction of these samples was calculated with a median of 11.03% (95% CI: 8.89, 13.20). Conclusions: NGS for non-invasive fetal blood group genotyping is an accurate and reliable method. In-house validation of the used assays can be performed using healthy donors to determine the LOD, LOQ and sensitivity. The threshold for paternally inherited fetal HPA*1A and KEL*01.01 alleles could be set at 1% (i.e., 2% fetal fraction) to obtain reliable test results. Internal controls for assessing the fetal fraction are essential to avoid false-negative test results. Full article

The Indonesian Local Ettawah Goat (ILEG) exhibits substantial genetic variation, suggesting its potential for high productivity and promote sustainable practices in farm animal breeding. This study aimed to investigate the molecular characteristics of prolific ILEG by identifying potential candidate genes through polymerase chain reaction (PCR) analysis of the bone morphogenetic protein receptor type 1B (BMPR1B) gene with two variants: alleles G and A. The research involved PCR amplification and sequencing of the BMPR1B A allele, followed by a combined PCR approach integrating both A and G alleles for genotyping. Blood samples were collected from 73 does with documented prolificacy history and 358 does without prolificacy histories, sourced from seven village breeding operations in East Java. PCR amplification yielded fragments of 556–1181 base pairs in all samples. Haplotype analysis revealed 15 unique haplotypes with a diversity of 0.94 and a mutation frequency of 27.15%. Integration of the BMPR1B alleles G and A revealed polymorphic prolific traits. Polymorphism analysis of 385 ILEGs demonstrated allele frequencies of 0.55 for allele A and 0.45 for the allele G. Average fecundity rates associated with the BMPR1B polymorphism were 1.49 offspring for the homozygous AA, 1.60 for the heterozygous GA, and 1.89 for the homozygous GG. While overall differences among genetic groups were approached statistically significantly (Kruskal–Wallis, p = 0.056), pairwise comparison (Mann–Whitney test) revealed that homozygous GG was significantly associated with higher prolificacy compare to the heterozygous GA (p = 0.029) and homozygous AA (p = 0.040). Similar results were also obtained from data without documented history. These findings suggest that the GG polymorphism of BMPR1B may increase prolificacy in ILEG. Furthermore, the higher frequency of allele G highlights the importance of considering prolificacy traits in breeding selection strategies to enhance sustainable genetic improvement and increase litter size in ILEG. It is recommended to apply dual-primer specific amplification and fragment size differentiation as key molecular approaches for polymorphism of the BMPR1B gene and prolificacy, since these methods can highlight genetic variation and provide valuable markers for breeding programs of the Indonesian Local Etawah Goat. Full article

GADD45 (growth arrest and DNA damage inducible 45) is a crucial signaling regulator in cells and plays an important role in various biological processes, including cellular stress response, cell cycle control, DNA damage repair, apoptosis, and tumor suppression. Our previous studies identified GADD45b as a candidate gene associated with resistance to largemouth bass ranavirus (LMBV) infection in largemouth bass (Micropterus salmoides). In the present study, the upstream intergenic polymorphisms of GADD45b were investigated to explore their association with resistance/susceptibility to LMBV. We employed the kompetitive allele specific PCR (KASP) assay to genotype 118 resistant individuals and 122 susceptible individuals following LMBV infection. The results revealed that SNP38943374 C>A and SNP38943495 G>A were significantly associated with LMBV resistance/susceptibility (p < 0.01). Individuals with the CC genotype of SNP38943374 and the GG genotype of SNP38943495 were more prevalent in resistant groups and have advantages in survival time after LMBV infection. Linkage disequilibrium analysis indicated strong linkage among these two loci. The distinct dynamic expression patterns of GADD45b in different genotypes following LMBV infection suggest its functional role in viral infection. Additionally, dynamic expression levels of immune-related genes (IFN-γ, TNF-α, and IL-10) also varied among different genotypes. These results demonstrated that the two SNPs in GADD45b could be used as candidate markers for further investigation of selective breeding of resistant largemouth bass to LMBV. Full article

Colorectal cancer (CRC) is driven by a complex spectrum of somatic mutations and structural variants that contribute to tumor heterogeneity and therapy resistance. In this study, we performed a comparative analysis of short-read Illumina and long-read Nanopore sequencing technologies across multiple CRC sample groups, encompassing diverse tissue morphologies. Our evaluation included general base-level metrics—such as nucleotide ratios, sequence match rates, and coverage—as well as variant calling performance, including variant allele frequency (VAF) distributions and pathogenic mutation detection rates. Focusing on clinically relevant genes (KRAS, BRAF, TP53, APC, PIK3CA, and others), we characterized platform-specific detection profiles and completed the ground truth validation of somatic KRAS and BRAF mutations. Structural variant (SV) analysis revealed Nanopore’s enhanced ability to resolve large and complex rearrangements, with consistently high precision across SV types, though recall varied by variant class and size. To enable direct comparison with the Illumina exome panel, we applied an exonic position reference file. To assess the impact of depth and PCR amplification, we completed an additional high-coverage Nanopore sequencing run. This analysis confirmed that PCR-free protocols preserve methylation signals more accurately, reinforcing Nanopore’s utility for integrated genomic and epigenomic profiling. Together, these findings underscore the complementary strengths of short- and long-read sequencing platforms in high-resolution cancer genomics, and we highlight the importance of coverage normalization, epigenetic fidelity, and rigorous benchmarking in variant discovery. Full article

Wheat germplasm resources are an important material foundation for genetic improvement. In this study, 170 wheat germplasm resources were used from China, the International Maize and Wheat Improvement Center (CIMMYT), Europe (France, Finland, and Sweden), the United States, Canada, and Australia. Seven nutritional quality traits were evaluated for the 2019–2020 and 2020–2021 cropping seasons. The coefficient of variability for seven nutritional quality traits ranged from 6.99% to 30.65%. The average of genetic diversity (Shannon–Wiener diversity index, H′) was 1.87. The results showed that the average frequency of high-throughput competitive allele-specific PCR (KASP) markers was 69.4% on 17 KASP markers related to seven nutritional quality traits, the average of polymorphic information content (PIC) was 0.308, and the genetic effects were from 0.01% to 18.46%. One hundred and seventy wheat germplasm resources were classified into five groups at ΔK = 5 by genetic structure analysis. The first group comprised 62 germplasm resources (36.47%), the second group included 41 germplasm resources (24.11%), the third group contained 20 germplasm resources (11.76%), the fourth group contained 20 germplasm resources (11.76%), and the fifth group had 29 germplasm resources (17.06%). Germplasm resources from CIMMYT and China were found in the first group and the second group, accounting for 56.45% and 65.85%, respectively, while European germplasm resources constituted 50% of those within the fourth group. Five favorable haplotypes were identified, which were located on chromosomes 4A, 6A, 6B, and 7A: G4A1, G4A2, G6A, G6B, and G7A. Their genetic effects were 8.71%, 8.41%, 1.00%, 18.20%, and 1.16%, respectively. In the meantime, we found 12 significant SNPs of seven nutritional quality traits using haplotype analysis. The frequency of favorable haplotypes in the population ranged from 3.53% to 62.35%. Five haplotypes, G4A1, G4A2, G6A, G6B, and G7A, were beneficial, and their genetic effects were positive. Furthermore, the results offered favorable haplotypes and germplasm resources for enhancing nutritional quality. Full article

Faba bean rust is one of the major threats to the cultivation of faba beans worldwide. Three genes for rust resistance (Uvf-1, Uvf-2 and Uvf-3) and fifteen marker-trait associations have been identified so far. This study examines the genetic basis of rust resistance derived from BPL-261, an accessions that exhibits low infection frequency and a long latency period. We constructed a genetic map based on a RIL6 population derived from the BPL-261/Vf-274 cross, which consists of 91 individuals. Subsequent generations were used to evaluate rust resistance in Lattakia (Syria), Kafr El-Sheikh (Egypt) and Córdoba (Spain). A total of six QTLs for resistance were detected on chromosomes II, III, IV and V. Comparative analyses suggest that the QTL located on chromosome V is likely to be associated with Uvf-3. The QTL on chromosome III is close to Uvf-2 but it seems to be a different QTL since the confidence intervals do not overlap. Finally, the other QTLs constitute additional sources of rust resistance in faba beans. Functional analysis of the candidate genes within the confidence intervals suggests the hypothetical involvement of various resistance mechanisms, with salicylic acid playing a significant role but it should be confirmed with further studies. Our results advance understanding of rust resistance in faba bean. Markers identified in this study should be used to develop kompetitive allele-specific PCR (KASP) assays, after their utility has been confirmed in different genetic backgrounds. This will contribute to the development of durable rust-resistant faba bean cultivars. Full article

Background: Pancreatic ductal adenocarcinoma (PDAC) is a highly aggressive neoplasm often diagnosed at advanced stages. Immune checkpoint molecules, particularly programmed cell death protein-1 (PD-1) and its ligand PD-L1, are pivotal in tumor immune evasion. Genetic polymorphisms in PD-1/PD-L1 and their soluble isoforms (sPD-1/sPD-L1) may influence individual susceptibility to cancer and disease progression. Therefore, this study was conducted to examine the correlation between PD-1/PD-L1 gene polymorphisms, serum levels of sPD-1/sPD-L1, and their association with PDAC susceptibility, severity, and prognostication. Methods: This case–control study was performed with 150 PDAC patients and 150 controls. Clinical and laboratory data, including tumor markers (CA19-9 and CEA), were recorded. Allele-specific PCR was utilized to genotype PD-1 (rs6749527 and rs7421861) and PD-L1 (rs2297136, and rs4143815). sPD-1/sPD-L1 were quantified with ELISA. Mapping of the Kaplan–Meier survival curve of mutant genes was performed. Results: The rs7421861 AG and GG and rs4143815 GG genotypes, together with their G-alleles, were linked to increased PDAC risk and greater tumor burden. In contrast, the rs2297136 GG genotype and G-allele conferred protection against PDAC development. Serum sPD-L1 levels, rather than sPD-1, were markedly elevated in PDAC patients, progressively increased with tumor grade, and correlated with tumor markers. Also, higher PD-L1 gene expression was associated with lower overall survival. Conclusions: PD-1/PD-L1 genetic variants, particularly rs7421861 and rs4143815, along with sPD-L1 levels, correlate with PDAC susceptibility and disease severity. These findings endorse the prospects of integrating immune checkpoint genetic variants and soluble biomarkers for early identification, risk stratification, prognostication, and personalized therapeutic strategies in PDAC management. Full article

Rhizoctonia solani root rot (RSRR) is a major disease that significantly reduces soybean yields, causing substantial economic losses to global soybean production. To elucidate the genetic basis of RSRR resistance, 310 soybean germplasm accessions were evaluated using the disease severity index (DSI) following inoculation with R. solani. Among these accessions, 46.13% were susceptible, and only 2.26% exhibited high resistance. Utilizing resequencing data consisting of 738,561 Single Nucleotide Polymorphism (SNP) loci, a genome-wide association study (GWAS) was performed by integrating both general linear model (GLM) and mixed linear model (MLM) approaches, resulting in the identification of 21 SNPs significantly associated with resistance on chromosomes 3, 13, 15, 16, 17, and 18, and six candidate genes. RT-qPCR expression analysis revealed that four genes, including Glyma.03G166300, Glyma.03G168100, Glyma.13G212700, and Glyma.13G212300, were significantly upregulated in resistant genotypes after inoculation. Furthermore, Cleaved Amplified Polymorphic Sequences (CAPS) and Kompetitive Allele Specific PCR (KASP) molecular markers were successfully developed based on the RSRR-associated SNPs S3_38086892, S3_38247290, and S13_32595026, providing effective tools for marker-assisted selection (MAS). The findings strengthen our genetic knowledge concerning RSRR resistance and contribute to the molecular breeding of resistant soybean cultivars. Full article

Common vetch (Vicia sativa L.) is a globally green manure and forage crop, cultivated extensively worldwide. Its seeds serve as an important concentrated feed. Due to the late release of the reference genome, few studies were conducted to analyze the genetic mechanisms of grain yield, which hindered the progress of common vetch breeding. Marker-assisted selection (MAS) is the best and most effective way to accelerate the genetic improvement of grain yield-related traits in common vetch. In this study, we performed a genome-wide association study (GWAS) using the high-density single nucleotide polymorphism (SNP) data obtained through re-sequencing to better understand the genetic basis of grain yield-related traits. In total, six grain yield-related traits were evaluated in 172 accessions mainly sourced from China and Russia, across four environments, including branches per plant (NB), pod length (PL), number of pods per plant (NP), number of grains per pod (NG), hundred-grain weight (HGW), and grain yield (GY). Population structure analysis of the 172 accessions revealed four distinct subpopulations, exhibiting strong geographical correlation. In total, 38 loci have been identified as significantly associated with six grain yield-related traits, accounting for 13.3–31.7% of the phenotypic variances. Among them, qGY1.1 and qNG1.1, qNG2.2 and qPL2.1, qNG3.2 and qGY3.2, qNG4.1 and qPL4.1, qGY4.1 and qHGW4.1, qNG6.1 and qPL6.1, and qNB6.2 and qGY6.2 exhibit overlapping regions, suggesting that these regions are pleiotropic and should be prioritized for further research and breeding. In total, 12 candidate genes encoding auxin response factor, F-box repeat protein, gibberellin receptor, serine/threonine-protein kinase-like protein, and cellulose synthase-like protein were identified. Furthermore, we successfully developed and verified a kompetitive allele-specific PCR (KASP) marker (Kasp-NB6.2) for the number of branches. These findings provide molecular insights into grain yield-related traits in common vetch and offer valuable loci and molecular tools for MAS breeding. Full article

Somatic mutations in KRAS and TP53 are among the most common genetic alterations in pancreatic ductal adenocarcinoma (PDAC). Advances in PCR-based technologies now enable the detection of these mutations in tumor tissue and cell-free DNA (cfDNA), providing a minimally invasive approach to assess tumor burden. However, in resectable PDAC, circulating tumor DNA (ctDNA) may represent less than 0.1% of total cfDNA, requiring highly sensitive detection methods. The aim of our study was to assess two PCR-based assays—competitive allele-specific PCR (castPCR) and digital PCR (dPCR)—for detecting selected somatic mutations in tumor tissue, cfDNA, and extracellular vesicle-associated DNA (EV-DNA) from plasma. Matched primary tumor and preoperative plasma samples were collected from 50 patients undergoing upfront resection for PDAC. CastPCR was used for detecting selected KRAS, TP53, SMAD4, and CDKN2A mutations in tumor DNA. Additionally, dPCR was used to analyze KRAS and TP53 mutations in tumor DNA as well as cfDNA and EV-DNA. The concordance between both platforms was 71.4% for KRAS p.G12D and 58.3% for the analysis of TP53 p.R273H mutations in tumor tissue. However, dPCR detected these mutations in an additional 28.6% and 39.6% of samples, respectively. In cfDNA, dPCR identified KRAS p.G12D in 10.2% and TP53 p.R273H in 2.0% of samples. Mutation detection in EV-DNA was limited by low DNA yield. Both platforms proved effective for tumor DNA analysis, with dPCR offering greater sensitivity. Somatic mutation detection from liquid biopsy using dPCR further supports its potential utility in the preoperative setting. Full article

Background: Tuberculosis (TB) remains a primary global health concern, despite the widespread availability of effective chemotherapeutic interventions. The emergence and dissemination of drug-resistant strains of Mycobacterium tuberculosis, particularly those exhibiting resistance to rifampicin, present significant obstacles to the success of TB control programs. Consequently, there is an urgent need for rapid, sensitive, and specific molecular diagnostic tools to inform timely clinical decision-making and reduce the transmission of disease. Loop-mediated isothermal amplification (LAMP) has gained attention as a promising alternative to conventional polymerase chain reaction (PCR) techniques. This method, which facilitates DNA amplification under constant temperature conditions, offers advantages including high specificity, rapid turnaround time, and operational simplicity—features that render it especially suitable for implementation in resource-limited settings. Methods: In this study, a LAMP assay targeting the rpoB gene was developed, with particular focus on detecting the codon 531 C→T mutation associated with rifampicin resistance. A set of four to six primers was designed to recognize six distinct regions of the target sequence. Allele-specific amplification was achieved by incorporating a deliberate single nucleotide mismatch at the 3′ terminus of the B2 primer to enable precise discrimination between wild-type and mutant alleles. The assay was conducted at an optimized temperature of 61 °C for 60 min, followed by visual detection using a lateral flow dipstick (LFD) within five minutes. Results: The LAMP-LFD assay demonstrated 100% concordance with drug susceptibility testing (DST) and DNA sequencing. No cross-reactivity with wild-type strains was observed, underscoring the assay’s high specificity. Conclusions: This platform offers a robust, field-deployable solution for detecting the codon 531 C→T mutation associated with rifampicin resistance in low-resource settings. Full article

Background: It has been shown that human leucocyte antigen (HLA) alleles are related to certain diseases. Some alleles were associated with alloimmunization in individuals with thalassemia. In this study, we studied the distribution of HLA alleles among beta thalassemia (BT) patients compared to healthy controls. Material and Methods: The HLA results of 100 patients with BT and 100 healthy controls were obtained for the study. The HLA-A, -B and -DRB1 tissue typing were performed at the laboratory. The low-resolution sequence-specific primer (SSP)–polymerase chain reaction (PCR-SSP) (Olerup HLA-A,B,DR typing kit, USA) and sequence-specific oligonucleotide (SSO)–PCR (LABType HLA-A,B,DR kit, ABD) methods were performed using the Luminex genotyping kits. All related data were retrospectively analyzed. Results: One in five patients (21%) underwent hematopoietic stem cell transplantation (HSCT). Patients with HSCT had significantly lower frequency of HLA-B *14, HLA-DRB1 *11 and HLA-DRB1 *16 alleles and had a higher frequency of HLA-A *66, HLA-B *41, HLA-B *55, HLA-DRB1 *3 alleles compared to patients without HSCT (p < 0.05). The HLA-A *3, HLA-B *41 and HLA-B *55 alleles were more commonly seen in HSCT patients compared to the healthy group (p = 0.04). Female patients showed a higher frequency of HLA-B *58 and HLA-DRB1 *4 alleles (p = 0.04). Conclusions: This study demonstrated that HLA-B *41 and -B *55 alleles were closely related to HSCT among BT patients. It might be considered that the variance in certain HLA-B alleles in BT patients might cause difficulty in finding a matched donor in this limited population. Full article