Objective: To evaluate the diagnostic performance of magnetic resonance spectroscopy (MRS) in discriminating fumarate hydratase-deficient (FH-d) uterine leiomyomas (ULs) from FH-preserved ULs. Materials and Methods: This study consisted of three stages, with independent cohorts recruited for each stage: 1) sample-size estimation was retrospectively performed on UL specimens (diameter ≥3 cm; age, 20–40 years) from our database with immunohistochemistry (IHC) for 2-succinocysteine (2-SC) as the reference, without genetic testing, 2) MRS sequence optimization in confirmed FH germline mutation participants with ultrasound-detected ULs (diameter ≥3 cm), without IHC analysis, and 3) prospective diagnostic test accuracy was evaluated in consecutive participants with ultrasound-detected ULs (diameter ≥3 cm;age, 20–40 years), using IHC for 2-SC for determining the FH status and subsequent genetic testing in those with positive 2-SC results to identify whether FH mutations were germline or somatic in origin. The choline and fumarate peaks in MRS were classified as positive, negative, or technical failure (TF). TFs were analyzed separately and excluded from the primary diagnostic accuracy calculations. T1-, T2-, and diffusion-weighted images were interpreted as hyperintense or hypointense. The enhancement rate and apparent diffusion coefficient were also acquired. Diagnostic performance was compared between MRS and various magnetic resonance imaging (MRI) features. Results: The optimal MRS parameters for the fumarate peak were echo time (TE) = 140 ms and an average of 256. Among the 360 prospective participants, 37 were confirmed to have FH-dULs. MRS showed positive fumarate peaks in 35 of 37 FH-dULs.After excluding six TFs, the positive fumarate peak on MRS showed 94.6% (35/37) sensitivity, 99.7% (316/317) specificity, and 99.2% (351/354) accuracy, all of which were significantly superior to those of other MRI features (P ≤ 0.002). Conclusion A positive fumarate peak on MRS may be a useful imaging biomarker for diagnosing FH-dULs.

Objective: To characterize the sequence polymorphism of HLA-A, -B, and -C loci in the northern Han Chinese population and to evaluate their selection signals and phylogenetic patterns based on long-read sequencing data. Methods: A total of 408 unrelated healthy blood donors were enrolled. Long-read sequencing of HLA-A, -B, and -C loci was performed using the PacBio Sequel II platform. The Ewens-Watterson neutrality test, sliding-window nucleotide diversity (π) and Tajima′s D analyses were conducted, together with genetic distance heatmaps, principal coordinates analysis (PCoA), and maximum likelihood phylogenetic analysis to assess polymorphism distribution, selection signals, and phylogenetic structure across the three loci. Results: The analyzed sequence lengths for the HLA-A, -B, and -C loci were 3 257 bp, 3 794 bp, and 3 831 bp, respectively; the numbers of locus-specific sequence types were 44, 82, and 56, with corresponding locus-specific sequence type diversities of 0.905 2, 0.964 9, and 0.939 8, respectively. The Ewens-Watterson test showed no significant deviation from neutrality (P>0.05). Sliding-window analysis revealed elevated π and Tajima′s D values in exons 2 and 3 as well as in certain intronic regions of HLA-A and HLA-B, whereas HLA-C exhibited relatively lower overall diversity. Genetic distance heatmaps, PCoA, and phylogenetic analysis consistently showed clear clustering in HLA-A and HLA-C, while HLA-B displayed the highest phylogenetic heterogeneity. Conclusion: HLA-A, -B, and -C gene sequences in the northern Chinese Han population exhibit high levels of polymorphism and marked regional heterogeneity. HLA-B shows greater diversity, stronger signals of selection, and more complex phylogenetic structure compared with HLA-A and HLA-C.

Objective:To identify the ABO blood group in a family with ABO forward/reverse typing discrepancies using serological methods and third-generation sequencing technology.Methods:In January 2024, samples with ABO blood group forward/reverse typing discrepancies were referred to Dalian Blood Center for blood group identification. Standard serological techniques were used to identify the ABO blood group. For the samples of the proband with a serological phenotype of AB weak and his father, full-length haplotype sequencing of the ABO gene was performed using third-generation sequencing. The impact of amino acid mutations on protein structure was also predicted. Results:Sequencing revealed that, compared to the reference sequence ABO*B.01, both the proband and his father had a haplotype with a mutation c.278C>T in Exon 7, resulting in p.Pro93Leu. This is consistent with the ABO*BW.12 genotype. The spatial structure of the ABO*BW.12 protein was altered, leading to reduced stability and impaired function of the B glycosyltransferase (GTB).Conclusion:For the identification of AB weak blood group, the combination of serological methods and third-generation sequencing technology enables accurate and efficient detection of haplotype mutations and identification of ABO subtypes, thus ensuring clinical transfusion safety.

Objective:To identify the ABO blood group in a family with ABO forward/reverse typing discrepancies using serological methods and third-generation sequencing technology.Methods:In January 2024, samples with ABO blood group forward/reverse typing discrepancies were referred to Dalian Blood Center for blood group identification. Standard serological techniques were used to identify the ABO blood group. For the samples of the proband with a serological phenotype of AB weak and his father, full-length haplotype sequencing of the ABO gene was performed using third-generation sequencing. The impact of amino acid mutations on protein structure was also predicted. Results:Sequencing revealed that, compared to the reference sequence ABO*B.01, both the proband and his father had a haplotype with a mutation c.278C>T in Exon 7, resulting in p.Pro93Leu. This is consistent with the ABO*BW.12 genotype. The spatial structure of the ABO*BW.12 protein was altered, leading to reduced stability and impaired function of the B glycosyltransferase (GTB).Conclusion:For the identification of AB weak blood group, the combination of serological methods and third-generation sequencing technology enables accurate and efficient detection of haplotype mutations and identification of ABO subtypes, thus ensuring clinical transfusion safety.

Objective To study the population genetic structure and phylogenetic relationships by combining Y-STR haplotype genetic information from the Han population in Dalian with 32 domestic and foreign groups.Methods Blood samples of 958 Han male volunteers from Dalian were collected.Genetic typing of 42 genetic loci was completed using Y-STR fluorescent reagent kits and capillary electrophoresis.Related forensic parameters were calculated.Nei's standard genetic distances among 33 populations based on 17 Y-STR loci were computed,in order to create a principal coordinate analysis as well as construct a phylogenetic tree.Results The analysis of genetic polymorphisms at 42 Y-STR loci revealed 30 unconventional alleles at 10 loci.Genetic analysis of the population based on 17 Y-STR loci confirmed that Dalian's Han population had the closest genetic distance to the Anshan's Han population,followed by populations from Henan,Heilongjiang,Jilin,Shandong,and Chongqing.Furthermore,the genetic distances between the Han population in Dalian and the Qiang population in Beichuan or the Miao population in Guizhou were relatively closer than that to the Manchu population living in Liaoning.Conclusion The genetic distance between the Han population in Dalian and other groups is not entirely proportional to ethnicities and geographical proximity.Both population migration and ethnic assimilation or isolation may have influence on it.

【Objective】 To investigate the effect of phenotypes of Duffy blood group on chemokine storage and chemokine scavenging function of erythrocytes. 【Methods】 Twenty-four erythrocyte samples were collected and tested Duffy blood phenotype using the anti-human globulin method, and erythrocyte CCL2, CCL5, CXCL8, and CCL11 content and their chemokine scavenging function using ELISA. The expression of Duffy antigens on erythrocytes was detected using a flow analyzer. 【Results】 The difference in CCL2 content(41.1±14.7 pg/mL vs 63.1±20.8 pg/mL)of erythrocyte lysate between Fy(a+b-) and Fy(a+b+) phenotype was statistically significant (P<0.05), however, the difference in the content of CCL5(794.5±320.1 pg/mL vs 846.9±359.4 pg/mL), CXCL8(59.5±34.2 pg/mL vs 49.1± 11.9 pg/mL), and CCL11(109.1±25.1 pg/mL vs 158.6 ±56.0 pg/mL) were not statistically significant (P>0.05).The difference in the scavenging function of CCL2(1471±202.1 pg/mL vs 1860±267.5 pg/mL)and CCL5 (848.5±461.7 pg/mL vs 1797±546.1pg/mL) between Fy(a+b-) and Fy(a+b+) phenotype were statistically significant (P<0.05), however, for CXCL8(1851±180.7 pg/mL vs 1 862± 248.3 pg/mL) and CCL11(691.0±125.7 pg/mL vs 781.7 ±293.8 pg/mL) scavenging function the difference were not statistically significant (P>0.05).The difference in Duffy antigen expression (mean fluorescent intensity:105.3±20.45 vs 111.9±18.30)on erythrocytes between Fy(a+b-) and Fy(a+b+) phenotype was not statistically significant (P>0.05). 【Conclusion】 The Fy(a+b+) and Fy(a+b-) phenotypes of the Duffy blood group can affect the chemokine storage and scavenging function of erythrocytes. Fy(a+b+) phenotypes are able to store more chemokines and have a stronger chemokine scavenging function than Fy(a+b-) phenotypes.

【Objective】 To investigate the expression characteristics of ABO gene mRNA in peripheral blood of patients with acute myeloid leukemia. 【Methods】 The RNA-seq data of acute myeloid leukemia in TCGA database and the whole blood RNA-seq data in GTEx database were downloaded. The difference of ABO gene mRNA expression between acute myeloid leukemia and GTEx whole blood samples was analyzed by R software, and the relationship between ABO gene mRNA expression and DNA methylation, immune infiltration and prognosis was analyzed. 【Results】 The expression level of ABO gene mRNA in acute myeloid leukemia(median: 1.333, P25: 3.654, P75: 0.401)was significantly lower than that in the control group(median: 3.576, P25: 3.747, P75: 3.470)(P<0.001). The expression level of ABO gene mRNA in acute myeloid leukemia was negatively correlated with the methylation of + 82(r=-0.249, P<0.001), + 618(r=-0.268, P<0.001), + 1 080(r=-0.105, P<0.001) and + 1 409(r=-0.210, P<0.001) at downstream of transcription start site, and positively correlated with the immune infiltration of nine types of immune cells (B cells, CD8 T cells, Cytotoxic cells, pDC, T cells, T helper cells, Tcm, Tfh and Treg) (P<0.001). There was no significant difference in overall survival between patients with high (median survival time: 366 days, confidence interval: 304-731 days) and low (median survival time: 731 days, confidence interval: 335-1 402 days) expression of ABO gene mRNA in acute myeloid leukemia (P>0.05). 【Conclusion】 The mRNA expression of ABO gene in peripheral blood of patients with acute myeloid leukemia is decreased, which is associated with DNA methylation of the first intron of ABO gene and immune infiltration, but not with the prognosis.

【Objective】 To determine the effect of storage time on the chemokine storage and chemokine scavenging function of erythrocyte atypical chemokine receptor 1(ACKR1). 【Methods】 Samples from six bags of red blood cells product, split into two gruoups(10 mL each), were stored in a refrigerator and sampled on day 5 and day 25 during storage, respectively, to measure the concentrations of CCL5, CXCL8 and CCL11 and the ACKR1 chemokine scavenging function of erythrocytes. In addition, 42 erythrocyte products(1 mL each), stored for 5 to 25 days, were sampled to measure the expression of ACKR1 and the concentrations of chemokines CCL5, CXCL8 and CCL11 on the erythrocyte membrane. 【Results】 Compared with RBCs stored for 5 days, no difference in the concentration of CCL5(467.7±250.2 pg/mL vs 586.9±209.5pg/mL, P>0.05) and CCL11(122.2±30.3pg/mL vs 125.5 ±32.7pg/mL, P>0.05)were noticed in erythrocyte lysates stored for 25 days, but the concentrations of CXCL8 decreased significantly(42.4±5.3pg/mL vs 24.3± 5.9pg/mL, P<0.05), and the scavenging ability of erythrocyte ACKR1 to chemokines CCL5(2 634.0±730.2pg/mL vs 453.8±257.4 pg/mL, P<0.05), CXCL8(1 117.0±236.6pg/mL vs 306.2±28.3pg/mL, P<0.05) and CCL11 decreased(1 278.0 ±164.5pg/mL vs 467.2 ±50.9pg/mL, P<0.05). Chemokines CCL5, CXCL8 and CCL11 had not been detected on the surface of erythrocyte membrane. There was no significant change in the expression of ACKR1 on the surface of erythrocytes from day 5 to day 25 (P>0.05). 【Conclusion】 Erythrocytes are the main places for storing ACKR1 binding chemokines. During the storage, the chemokine scavenging of erythrocyte ACKR1 and some intracellular the ACKR1 binding chemokines are reduced.

【Objective】 To investigate the correlation between human platelet antigens (HPA) polymorphisms and platelet parameters. 【Methods】 The HPA-2, HPA-3, HPA-5 and HPA-15 genotypes of 139 healthy Chinese Han individuals were detected using TaqMan-MGB probe real-time PCR, while platelet parameters including platelet count (PLT), mean platelet volume (MPV), platelet distribution width (PDW) and platelet-large cell ratio (P-LCR) were measured using hematology cell analyzer. 【Results】 The PLT was significantly lower in the individuals with HPA-2aa genotype compared to those with HPA-2ab [(234.35±50.10)×10³/μL vs (269.58±41.66)×10³/μL, P<0.05], while the PLT was significantly higher in individuals with HPA-5aa and HPA-15aa genotypes compared to those with HPA-5ab and HPA-15ab/bb [HPA-5: (239.36±49.81)×10³/μL vs (200.29±48.02)×10³/μL; HPA-15: (251.00±58.41)×10³/μL vs (231.29±45.20)×10³/μL, P<0.05], respectively. The MPV, PDW and P-LCR were significantly lower in individuals with HPA-5aa genotype compared to those with HPA-5ab [mpv: (10.01±0.72)fL vs (10.94±1.01)fL; PDV: (11.94%±1.35%) vs (14.25%±2.78%); P-LCR: (25.32%±5.03%) vs (31.73%±6.39%), P<0.05], but did not differ among the HPA-2 and HPA-15 genotypes. Besides, no significant differences in platelet parameters of individuals with HPA-3aa and HPA-3ab/bb genotypes were notable(P>0.05). HPA-2, -5 and -15 polymorphisms were identified as independent factors for platelet count, and HPA-5 polymorphism was an independent factor for platelet volume, revealed by multiple linear regression analysis. 【Conclusion】 HPA-2, -5 and -15 polymorphisms are correlated with platelet count, and HPA-5 polymorphism is correlated with platelet volume.