1.Histopathological observation of cerebral cortex and hippocampus in the mouse with synthetic vascular dementia
Jianxin ZHAO ; Yuanxiang TIAN ; Guoming LI ; Lihui WANG ; Yanjun ZHEN
Chinese Journal of Pathophysiology 2000;0(11):-
AIM: To observe pathomorphological changes in cerebral cortex and hippocampus in the mouse with synthetic vascular dementia. METHODS: The synthetic vascular dementia model was produced in the mouse. Animals were killed 7 d, 15 d, and 30 d after the operation, brain tissues were removed and embedded in paraffin. Section of 8?m thickness were stained with hematoxylin-eosin(HE) and Nissl methods, and observed with light microscope. RESULTS: The cerebral cortex in the mouse became thinner on the seventh day, karyopyknosis in partial nervous cells was formed, the number of local neurons was reduced, sieve structure was observed, and glial cells proliferated, with the similar results 15 d and 30 d after operation. Model mouses hippocampal cells in CA 1 area were reduced and almost disappeared 30 d after operation. At the same time, glial cells were abundantly proliferated, tubercles were formed. Cells in CA 2, CA 3 area were also reduced and hippocampal sclerosis occurred. CONCLUSION: Delayed necrosis of hippocampal pyramidal cells may be the pathological basis of ischemia cerebral vascular dementia.
2.Methylation of CpG island in ABO gene promoter coding glycosyltransferase with dual donor specificity
Qiong YU ; Yuqing SU ; Jianxin ZHEN ; Zhihui DENG
Chinese Journal of Tissue Engineering Research 2013;(31):5673-5679
BACKGROUND:During the research of ABO blood type antigen, the overwhelming majority samples of same ABO gene express a normal and same ABH antigen. But a certain amount samples with the same ABO genetic background show different antigen intensity expression as for different family or individuals. The ABO blood type has complex expression regulation mechanism. Analysis of ABO blood group serology and genetic background of these rare bi-specific AB phenotype specimens, and further studying on epigenetics may partly revealed ABO gene expression mechanism. OBJECTIVE:To study methylation of CpG island and explore the relationship between ABO gene promoter coding glycosyltransferase with dual donor specificity and ABH antigen expression. METHODS:Six samples detected as CisAB or B(A) phenotype were studied in this paper. The whole code sequences and promoter sequence of ABO gene were amplified respectively. The level of CpG methylation in promoter of ABO gene was further detected with bisulfite treatment method. RESULTS AND CONCLUSION:Among the six bi-specific AB phenotype samples, two previously-identified CisAB05/B(A)06 al eles with nt803C>G on the basis of B101 al ele sequence could be seen, and three additional methylated sites nt-33(30%), nt+27(50%) and nt+49(50%) were found between the two regions of CpG island in promoter of ABO gene. Two CisAB01 al eles with nt803C>G mutation on the basis of A101 sequence were found at nt-26C(10%). Other two B(A)04 al eles contained nt640A>G mutation on the basis of B101 sequence were found in the whole code sequences regions, and six additional methylated sites nt-33(10%), nt+16(50%), nt+57(60%), nt+59(60%), nt+68(60%) and nt+74(60%) were found between the two samples. No abnormity was identified in the promoter region of ABO gene. Our results indicated that the differential methylation levels in the CpG island of ABO gene promoter region may affect ABH antigens expression on the red cel membrane even if the samples had the same ABO genetic background.
3.Association of human leukocyte antigen class Ⅰ, Ⅱ allelic and haplotypic polymorphisms with leukemia in Han nationality of southern China
Jianxin ZHEN ; Guobin ZHANG ; Rui CHEN ; Zhihui DENG
Journal of Leukemia & Lymphoma 2021;30(1):31-37
Objective:To investigate the association of human leukocyte antigen (HLA) class Ⅰ (A, B and C), class Ⅱ (DRB1, DQB1 and DPB1) allelic and haplotypic polymorphisms with acute lymphoblastic leukemia (ALL), acute myeloid leukemia(AML) and chronic myeloid leukemia (CML) in Han nationality of southern China.Methods:The peripheral blood samples of 845 leukemia patients (323 cases of ALL, 350 cases of AML and 172 cases of CML) and 745 healthy blood donors from Han nationality of southern China in Shenzhen Blood Center were collected. The HLA-A, -B, -C, -DRB1, -DQB1 and -DPB1 genes were genotyped by using polymerase chain reaction-reverse sequence specific oligonucleotide (PCR-rSSO) and polymerase chain reaction-sequence based typing (PCR-SBT) methods to identify the first 4 digits of HLA alleles. The Arlequin 3.5 software was used to analyze HLA haplotypes. The correlations between HLA allelic and haplotypic polymorphisms and three types of leukemia were statistically analyzed at HLA low-resolution level (the first 2 digits of alleles) and high-resolution level (the first 4 digits of alleles), respectively.Results:P-values were adjusted by Bonferroni correction. In ALL group, the frequencies of A*02 (36.22% vs. 28.26%, χ 2 = 13.41, PC < 0.01) and its haplotype A*02-B*46-C*01 (15.35% vs. 10.23%, χ 2 = 10.90, PC = 0.02), DRB1*12 (15.79% vs. 11.10%, χ 2 = 9.02, PC = 0.03), A*02:03 (9.75% vs. 5.32%, χ 2 = 14.25, PC = 0.002) and its haplotype A*02:03-B*38:02-C*07:02 (3.80% vs. 1.51%, χ 2 = 10.41, PC = 0.02) were higher than those in healthy controls, which implied that these factors could confer risk effect in ALL. In AML group, the frequency of A*11-B*15-C*08-DRB1*15-DQB1*06-DPB1*02 (1.34% vs. 0.07%, χ 2 = 12.54, PC = 0.003) was significantly higher than that in healthy controls, suggesting that the risk effect might be conferred by this haplotype. In CML group, the frequencies of A*02 (36.63% vs. 28.26%, χ 2 = 9.33, PC = 0.02) and its haplotype A*02-B*15-C*04 (2.17% vs. 0.29%, χ 2 = 11.74, PC = 0.02), and DRB1*03:01-DQB1*02:01-DPB1*02:01 (1.86% vs. 0.14%, χ 2 = 13.10, PC = 0.01) were higher than those in healthy controls, which implied that these factors could confer risk effect in CML, whereas the frequency of DRB1*13 (1.45% vs. 5.25%, χ 2 = 9.29, PC = 0.03) was lower than that in healthy controls, suggesting that it was a CML antagonistic gene. Conclusion:Leukemia susceptible or antagonistic HLA alleles and haplotypes are found at low-resolution and high-resolution levels of HLA, which might provide reference for investigating the pathogenesis of leukemia and guiding formulation of effective treatment strategies in Han nationality of southern China.
4.Progress in research on genetic polymorphisms and sequence-based typing of KIR genes.
Chinese Journal of Medical Genetics 2016;33(6):867-870
Killer cell immunoglobulin-like receptors (KIRs) are members of the immunoglobulin superfamily expressed on natural killer (NK) cells and a subset of T cells. Given the receptor-ligand relationship between certain KIR and human leukocyte antigen (HLA) classⅠmolecules, the KIRs are involved in the regulation of NK cell activation through conveying activating or inhibitory signals, which plays an important role in immunities involved in transplantation, tumor, infection as well as autoimmune diseases. This paper has provided a review for the research on KIR gene polymorphisms and summarized the characteristics of the sequence-based typing method for KIR genes.
HLA Antigens
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genetics
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Histocompatibility Antigens Class I
;
genetics
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Humans
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Killer Cells, Natural
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metabolism
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Polymorphism, Genetic
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genetics
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Receptors, KIR
;
genetics
5.Scanning skill and quality control in prostate magnetic resonance spectroscopy
Liyuan FU ; Yonggang LIANG ; Jian CHEN ; Ping NI ; Bingchuan LIU ; Jianxin CHEN ; Ziqian CHEN ; Chaoshang LIN ; Zhen CHEN
Chinese Medical Equipment Journal 2017;38(4):94-97
Objective To investigate the factors influencing the image quality of prostate magnetic resonance spectroscopy (MRS),and to put forward quality control measures to improve MRS in success ratio and image quality.Methods Totally 1 255 patients with prostate diseases confirmed pathologically from October 2009 to December 2015 had their MRS data analyzed retrospectively.MRS was executed with multi-voxel 3D chemical shift imaging technique,and special-purpose software was involved in for post processing.Re-scanning would be performed in case of baseline clutter,low SNR and etc.Results There were 1 218 patients had MRS executed well in preparedness,positioning,parameters setup,post processing,baseline and chemical shift,one patient underwent unsuccessful MRS due to incorrect bed mode,9 ones due to unstable baseline resulting from unsatisfactory preparedness,26 ones due to unstable baseline resulting from bad shimming and 1 case due to non-standard post processing.Conclusion Prostate SRS depends on patient preparedness,positioning,parameters setup,shimming and post processing.
6.Association of genetic polymorphisms of KIR-HLA system with chronic myeloid leukemia among ethnic Hans from southern China.
Zhihui DENG ; Jianxin ZHEN ; Daming WANG ; Liumei HE ; Hongyan ZOU
Chinese Journal of Medical Genetics 2017;34(1):53-57
OBJECTIVETo explore the association of KIR-HLA gene polymorphism with chronic myeloid leukemia (CML) among ethnic Hans from southern China.
METHODSA total of 172 adult CML patients and 480 unrelated healthy controls were screened for the presence of KIR with sequence-specific primers-PCR (PCR-SSP) and sequence-based typing (SBT) of HLA-A, -B and -C loci. Polymorphisms of the KIR-HLA system were analyzed at 4 levels, and the frequencies of KIR framework genes and KIR profiles, classⅠHLA ligands, matched KIR+HLA pairs and KIR-HLA compound profile were compared between the two groups. P values were calculated using SPSS 13.0 software.
RESULTSFor the CML group, the frequencies of HLA-C2 ligand, 2DL1+HLA-C2 pair and HLA-B Bw4-80I were significantly lower than those of the control group, suggesting a protective effect against CML (HLA-C2: OR=0.386, 95%CI:0.240-0.620, P<0.01; 2DL1+HLA-C2: OR=0.316, 95%CI:0.191-0.525, P<0.01; HLA-B Bw4-80I: OR=0.576, 95%CI:0.384-0.862, P<0.01). The frequencies of KIR2DL1 ligand (HLA-C2) and KIR3DL1 ligand (HLA-B Bw4-80I) in the CML group were significantly lower than that of the control group, suggesting that the HLA-C2 and HLA-B Bw4-80I expression is probably decreased in the CML patient group, which led to reduced inhibitory signal and enhanced activating signal of KIR2DL1and/or KIR3DL1NK cells. Notably, the frequency of KIR-HLA compound profiles ID2 (KIR AA1-HLA-C1/C1-Bw6/Bw6-A3/11) in CML patients significantly increased in the CML patient group compared with the control group, suggesting that the KIR-HLA compound profiles ID2 may be a risk factor for CML (OR=2.163, 95%CI 1.198-3.906, P<0.01).
CONCLUSIONAbove analysis has identified certain protective and risk factors for CML from the KIR-HLA system, which may provide a clue for the pathogenesis of leukemia and development of individualized immune therapy.
Asian Continental Ancestry Group ; genetics ; China ; Gene Frequency ; Genetic Predisposition to Disease ; ethnology ; genetics ; Genotyping Techniques ; HLA Antigens ; genetics ; HLA-A Antigens ; genetics ; HLA-B Antigens ; genetics ; HLA-C Antigens ; genetics ; Humans ; Leukemia, Myelogenous, Chronic, BCR-ABL Positive ; ethnology ; genetics ; Odds Ratio ; Polymerase Chain Reaction ; Polymorphism, Genetic ; Protein Isoforms ; genetics ; Receptors, KIR ; genetics ; Risk Factors
7.Association of molecular genetic polymorphism of KIR-HLA systems with acute leukemia in Southern Chinese Han.
Jianxin ZHEN ; Zhichao YANG ; Zhihui DENG
Chinese Journal of Medical Genetics 2022;39(5):499-504
OBJECTIVE:
To investigate the association of molecular genetic polymorphism of KIR-HLA systems with acute lymphoblastic leukemia (ALL) and acute myelocytic leukemia (AML) in southern Chinese Han.
METHODS:
A total number of 323 cases of adult ALL patients, 350 adult AML, and 745 random healthy controls were tested by KIR PCR-SSP and HLA-A, -B, -C sequence-based typing (PCR-SBT) methods. The molecular genetic polymorphisms of KIR genes and KIR gene profiles, classⅠ HLA ligands, and KIR receptor +HLA ligand combinations were compared between patient and healthy control groups.
RESULTS:
A total number of 32 and 33 different kinds of KIR profiles were identified in the ALL and AML patient groups. Compared with the observed frequencies of KIR profiles in healthy controls, the observed frequencies of KIR profile AA1 were significantly lower in both the ALL and AML groups (ALL group: 45.79% vs. 55.30%, Pc=0.004; AML group: 48.27% vs. 55.30%, Pc=0.030). In the ALL group, the observed frequencies of 2DL2 gene and 2DL2+HLA-C1 combination, 2DS2 gene and 2DS2+HLA-C1 combination were significantly higher than those in healthy controls (P<0.05), whereas the frequencies of 2DL3 gene, HLA-A3/A11 ligand and 3DL2+HLA-A3/A11 combination were significantly lower than those in healthy controls. However, no significant differences remained after Bonferroni correction (Pc>0.05). In AML group, the observed frequencies of both 2DS1 and 2DL5 genes were significantly higher than that in healthy controls, whereas the frequencies of HLA-C2 ligand and 2DL1+HLA-C2 combination were significantly lower than that in healthy controls(P<0.05). However, no significant difference existed after Bonferroni correction (Pc>0.05).
CONCLUSION
This study revealed some potential susceptibility or protective factors related to acute leukemia in southern Chinese Han, especially the protective factor KIR profile AA1, which might provide new clues and theoretical basis for the pathogenesis of acute leukemia and individualized immunotherapy.
Adult
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China
;
Gene Frequency
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Genotype
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HLA-A3 Antigen/genetics*
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Humans
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Leukemia, Myeloid, Acute/genetics*
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Ligands
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Polymorphism, Genetic
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Receptors, KIR/genetics*
8.Sequence analysis of a novel allele HLA-C*01:78.
Daming WANG ; Hongyan ZOU ; Yunping XU ; Jianxin ZHEN ; Liumei HE ; Suqing GAO
Chinese Journal of Medical Genetics 2014;31(4):511-514
OBJECTIVETo investigate the genetic basis for a novel allele HLA-C*01:78.
METHODSGenomic DNA was extracted from peripheral blood using a QIAGEN quick DNA extraction kit. The regions encompassing HLA-C from exon 1 to intron 3 and intron 3 to 3'UTR were amplified and cloned using a cloning sequencing kit in order to split the two alleles apart. Selected clones were sequenced to include exons 2 to 4.
RESULTSSequencing results have indicated the HLA-C alleles of the proband to be a novel C*03:04 allele. The sequence has been submitted to GenBank (KF049216). BLAST analysis has confirmed the novel allele to have one nucleotide difference as C*01:03 at genomic nt316C>A (codon 82CGC>AGC) in exon 2, which has resulted in replacement of one amino acid (82R>S).
CONCLUSIONThe novel allele has been officially named as C*01:78 by the WHO Nomenclature Committee. The HLA allele type of the proband was therefore A*02:07, 24:02; B*40:01, 46:01; C*01:78, 03:04; DQB1*05:02, 05:02; DRB1*16:02, 16:02.
Alleles ; Asian Continental Ancestry Group ; genetics ; Base Sequence ; Exons ; Female ; HLA-C Antigens ; genetics ; Humans ; Introns ; Leukemia ; genetics ; Male ; Molecular Sequence Data ; Polymorphism, Single Nucleotide ; Sequence Analysis, DNA
9.Clinical anatomical study of the adult lateral skull base.
Dezhi YU ; Jianxin QIU ; Jie WANG ; Wenwen ZHEN
Journal of Clinical Otorhinolaryngology Head and Neck Surgery 2008;22(10):449-453
OBJECTIVE:
Through the observation and the measurements of the significant anatomical landmark the lateral skull base, to provide anatomical data of clinical location and navigation for surgery at the lateral skull base.
METHOD:
Significant anatomical landmarks of twenty adult cadaveric heads (40 sides) fixed in 10% formaldehyde and 20 operation cases (20 sides) had been observed and measured. Lateral skull bases of cadaveric heads were numbered from 1st to 40th, while the operation cases were numbered from 1st to 20th.
RESULT:
The anatomical data was achieved by measuring related anatomical landmark as follows: the distances between the significant landmark of the lateral skull base and the pars neuraxis, vein of the jugular foramen; the areas of trautmann triangle; post labyrinths triangle and the superficial triangle of processus mastoideus; the maximal distance of initiative displacement of facial nerve in the lateral skull base operations.
CONCLUSION
The data measured at lateral skull base could effectively help operators not only to enlarge the field of vision in operations with security and to avoid the damagement of the important blood vessel and nerves, but also to retain the function of the facial nerve to the utmost.
Adult
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Female
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Humans
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Male
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Mastoid
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anatomy & histology
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Skull Base
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anatomy & histology
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Temporal Bone
;
anatomy & histology
10.A protective effect conferred by KIR3DL1 and its cognate ligand against cervical cancer among ethnic Han Chinese population and its potential mechanism.
Jianxin ZHEN ; Leilei ZHU ; Weihong LI ; Haiyan HU ; Zhihui DENG ; Likuan XIONG
Chinese Journal of Medical Genetics 2019;36(10):1035-1038
OBJECTIVE:
To explore the role of inhibitory KIR (iKIR) and its cognate HLA ligand in the occurrence and development of cervical cancer among ethnic Han Chinese and its potential mechanism.
METHODS:
Peripheral blood samples from 265 Han Chinese patients with cervical intraepithelial neoplasia (CIN)/cervical cancer and 200 ethnically matched healthy controls were collected. The results of KIR PCR-SSP, HLA PCR-rSSO and KIR3DL1 PCR-SBT, together with cervical cancer data from the TCGA database, were used to assess the association of iKIR genes, receptor-ligand gene combinations, iKIR transcription level in the tumor tissue and the KIR3DL1 alleles with the occurrence and development of cervical cancer.
RESULTS:
Among the four iKIR genes (KIR2DL1, 2DL2/3, 3DL1 and 3DL2), the frequencies of KIR3DL1 and KIR3DL1-HLA-Bw4 genes among controls were significantly higher than those of the cervical cancer group (96.5% vs. 87.0%, P = 0.018; 81.5% vs. 64.8%, P=0.009). The survival rate of cervical cancer patients with a high transcription level of KIR3DL1 in tumor tissues was significantly higher than those with a low/medium transcription level (P=0.028). The frequency of strong-inhibitory and high-expression KIR3DL1*01502 allele among the healthy population was significantly higher than that of the cervical cancer group (76.0% vs. 59.3%, P =0.015).
CONCLUSION
Combined KIR3DL1 and KIR3DL1-HLA-Bw4 can confer a protective effect against the development of cervical cancer, which may be attributed to the strong-inhibitory and high-expression allele of KIR3DL1*01502.
Alleles
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Asian Continental Ancestry Group
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China
;
Ethnic Groups
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Female
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HLA-B Antigens
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genetics
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Humans
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Protective Factors
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Receptors, KIR
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Receptors, KIR3DL1
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genetics
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Uterine Cervical Neoplasms
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genetics