1.Analysis of allele frequencies of HLA-DRB1*12:01:01G and HLA-DRB1*14:01:01G groups.
Jun-jun HE ; Wei ZHANG ; Yan-min HE ; Wei WANG ; Zhe-dong HAN ; Nan-ying CHEN ; Fa-ming ZHU ; Hang-jun LV ; Li-xing YAN
Chinese Journal of Medical Genetics 2012;29(1):87-90
OBJECTIVETo discriminate and analyze the relative frequencies of alleles in HLA-DRB1*12:01:01G(HLA-DRB1*12:01:01/12:06/12:10/12:17) and HLA-DRB1*14:01:01G (DRB1*14:01:01/14:54) groups and assess their associations with HLA-DRB3 and HLA-DQB1 loci.
METHODSA total of 115 DNA samples previously typed as HLA-DRB1*12:01:01G and 108 samples from HLA-DRB1*14:01:01G were selected. DNA sequences for exons 1 to 3 of the HLA-DRB1 locus were analyzed for HLA-DRB1*12:01:01G, and exons 2 to 3 were analyzed for HLA-DRB1*14:01:01G by polymerase chain reaction sequence-based typing (PCR-SBT). Genotyping of HLA-DRB3 and HLA-DQB1 were achieved by PCR-SBT.
RESULTSAmong 115 samples previously typed as HLA-DRB1*12:01:01G, 101 (87.8%) were confirmed as HLA-DRB1*12:01:01 and 14 (12.2%) were HLA-DRB1*12:10, but HLA-DRB1*12:06 and HLA-DRB1*12:17 alleles were not identified. For 108 samples previously typed as HLA-DRB1*14:01:01G, all were typed as HLA-DRB1*14:54. HLA-DRB1*12:01:01 was linked with HLA-DRB3*01:01:02 and HLA-DQB1*03:01, while HLA-DRB1*12:10 was strongly linked with HLA-DRB3*02:02:01 and HLA-DQB1*03:01. HLA-DRB1*14:54 was strongly linked with HLA-DRB3*02:02:01 and two different HLA-DQB1*05:02, *05:03 alleles.
CONCLUSIONHLA-DRB1*12:01:01 was more prevalent than HLA-DRB1*12:10 in the HLA-DRB1*12:01:01G group, and HLA-DRB1*14:54 was the dominant allele for HLA-DRB1*14:01:01G.
Alleles ; Exons ; Gene Frequency ; Genotype ; HLA-DQ beta-Chains ; genetics ; HLA-DRB1 Chains ; genetics ; HLA-DRB3 Chains ; genetics ; Humans
2.The relationship between nonresponse to hepatitis B vaccine and HLA genotype/haplotype.
Mingyue LI ; Rongcheng LI ; Shangzhi HUANG ; Jian GONG ; Xianjia ZENG ; Yanping LI ; Ming LU ; Hui LI
Chinese Journal of Preventive Medicine 2002;36(3):180-183
OBJECTIVETo study the relationship between the nonresponse to hepatitis B vaccine and HLA genotype/heplotype in Chinese population and provide the evidence for explaining the genetic mechanism of this nonresponse.
METHODSOur research focused on the relationship between nonresponse to Hepatitis B vaccine and HLA-DRB1, DRB3, DRB4, DRB5 and DQB1 genotype/haplotype in Chinese population, collected from a community in Guangxi Zhuang Autonomous Region. The group specific amplification was employed to characterize 107 individuals' genotype and haplotype of HLA clusters. Different models statistics such as relative risk test, correlation test and linkage disequilibrium analysis were used to analyze the data.
RESULTSThe results showed that there is a linkage disequilibrium between nonresponse to Hepatitis B vaccine and HLA haplotype DR4, 1122 (DRB1 * 0401- 22, 1122)-DR53 (DRB4 * 0101101, 0102/3)-DQB4 (DQB1 * 04).
CONCLUSIONIn Chinese population, nonresponse to hepatitis B vaccine is highly associated with special HLA haplotye.
Asian Continental Ancestry Group ; genetics ; China ; Genotype ; HLA-DQ Antigens ; classification ; genetics ; HLA-DQ beta-Chains ; HLA-DR Antigens ; classification ; genetics ; HLA-DRB1 Chains ; HLA-DRB3 Chains ; HLA-DRB4 Chains ; HLA-DRB5 Chains ; Haplotypes ; Hepatitis B ; genetics ; immunology ; prevention & control ; Hepatitis B Vaccines ; immunology ; Humans ; Linkage Disequilibrium
3.Study on the genetic association between DRB3 and DRB1 loci in the human MHC region and psychotic symptoms of schizophrenia.
Ya-qin YU ; Qiong YU ; Ying-jun GUO ; Hong SANG ; Jie-ping SHI ; Shu-zheng LIU ; Jun WEI
Chinese Journal of Epidemiology 2003;24(9):815-818
OBJECTIVEThe genomic region of the human major histocompatibility complex (MHC) is located in the short arm of chromosome 6 (6p). Linkage studies have shown that the 6p region may contain a gene for schizophrenia, the MHC region has thus become particularly important in searching for the schizophrenia susceptibility gene. The present study was designed to investigate the genetic association of DRB3 and DRB1 genes with psychotic symptoms of schizophrenia.
METHODSPCR-based restriction fragment length polymorphism (RFLP) analysis was applied to genotype two single nucleotide polymorphisms (SNPs) located in the DRB3 locus and in the DRB1 one in 116 Chinese Han family trios consisting of fathers, mothers and affected offspring with schizophrenia. Chi-square (chi(2)) test and haplotype-based relative risk (HRR) analysis were used on genotyping data.
RESULTSData on HRR analysis did not show a genetic association either between the DRB3 locus and schizophrenia or between the DRB1 locus and the illness. However, the SNP rs707954, a G to T base change, present in the DRB1 locus showed strong association with idea of reference (chi(2) = 5.484, df = 1, P = 0.019), while the genotype of rs707954 showed an association with idea of reference (chi(2) = 6.771, df = 2, P = 0.034) as will as with apathy (chi(2) = 12.110, df = 4, P = 0.017).
CONCLUSIONDRB1 locus seemed likely to be associated with psychotic symptoms as idea of reference and apathy. Further studies were necessary to reveal the relations between DRB1 gene or nearby locus with its susceptibility to schizophrenia.
Chromosome Mapping ; Chromosomes, Human, Pair 6 ; Female ; Gene Frequency ; Genetic Predisposition to Disease ; HLA-DR Antigens ; genetics ; HLA-DRB1 Chains ; HLA-DRB3 Chains ; Humans ; Male ; Polymorphism, Single Nucleotide ; Schizophrenia ; genetics
4.Clinical Spectrum and Prognostic Factors of Acute Necrotizing Encephalopathy in Children.
Hye Eun SEO ; Su Kyeong HWANG ; Byung Ho CHOE ; Min Hyun CHO ; Sung Pa PARK ; Soonhak KWON
Journal of Korean Medical Science 2010;25(3):449-453
This study was conducted to investigate the etiology, the clinical characteristics and prognosis of acute necrotizing encephalopathy (ANE) in Korean children. Six children (1 yr to 7 yr) patients with ANE were enrolled. They were diagnosed by clinical and radiological characteristics and their clinical data were retrospectively analyzed. In a search of clinically plausible causes, brain MRI in all patients, mitochondrial DNA studies for mitochondrial encephalomyopathy, lactic acidosis, and strokelike episodes (MELAS) and myoclonus epilepsy and ragged red fibers (MERRF) in four patients, and genomic typing on HLA DRB/HLA DQB genes in three patients were performed. All had precedent illnesses and the main initial symptoms included mental change (83%), seizures (50%), and focal deficits (50%). MRI revealed increased T2 signal density in the bilateral thalami and/or the brainstem in all patients. Mitochodrial DNA studies for MELAS and MERRF were negative in those children and HLA-DRB1*1401, HLA-DRB3*0202, and HLA-DQB1*0502 seemed to be significant. A high dose steroid was given to all patients, which seemed to be partly effective except for 2 patients. In conclusion, ANE is relatively rare, but can result in serious neurological complication in children. Early detection and appropriate treatment may lead to a better neurological outcome.
Child
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Child, Preschool
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Female
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HLA-DQ Antigens/metabolism
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HLA-DQ beta-Chains
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HLA-DR Antigens/metabolism
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HLA-DRB1 Chains
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HLA-DRB3 Chains
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Humans
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Infant
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Korea
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Leukoencephalitis, Acute Hemorrhagic/diagnosis/etiology/*pathology/*physiopathology
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MELAS Syndrome/pathology/physiopathology
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MERRF Syndrome/pathology/physiopathology
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Magnetic Resonance Imaging
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Male
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Prognosis
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Retrospective Studies