Analysis of allele frequencies of HLA-DRB1*12:01:01G and HLA-DRB1*14:01:01G groups / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To 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.</p><p><b>METHODS</b>A 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.</p><p><b>RESULTS</b>Among 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.</p><p><b>CONCLUSION</b>HLA-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.</p>

Clinical Spectrum and Prognostic Factors of Acute Necrotizing Encephalopathy in Children

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.

Study on the genetic association between DRB3 and DRB1 loci in the human MHC region and psychotic symptoms of schizophrenia / 中华流行病学杂志

<p><b>OBJECTIVE</b>The 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.</p><p><b>METHODS</b>PCR-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.</p><p><b>RESULTS</b>Data 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).</p><p><b>CONCLUSION</b>DRB1 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.</p>

The relationship between nonresponse to hepatitis B vaccine and HLA genotype/haplotype / 中华预防医学杂志

<p><b>OBJECTIVE</b>To 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.</p><p><b>METHODS</b>Our 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.</p><p><b>RESULTS</b>The 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).</p><p><b>CONCLUSION</b>In Chinese population, nonresponse to hepatitis B vaccine is highly associated with special HLA haplotye.</p>