Association between attention deficit hyperactivity disorder and the DXS7 locus

Attention deficit hyperactivity disorder (ADHD) is a prevalent disorder in children. The etiology of this disease is not clear. Genetics studies have suggested the involvement of the dopamine DRD-4 receptor gene and dopamine transporter gene (DAT1). Clinical studies have shown that monoamine oxidase-B (MAO-B) inhibitors are effective in the treatment of ADHD. These findings suggest that monoamine oxidase (MAO) genes might be involved in the origin of ADHD. In the present work, the DXS7 locus of chromosome X, which is closely linked to MAO genes, was selected as a marker to study the possible association between ADHD and MAO genes in the Chinese population. Haplotype-based haplotype relative risk (HHRR) and the transmission disequilibrium test (TDT) methods were employed to analyze the association and the linkage disequilibrium, respectively. Significant association (X(2) = 15.86; 1 df; P < 0.001) and linkage (X(2) = 14.88; 1 df; P < 0.001) were detected between the 157-bp allele of the DXS7 locus and the DSM-III-R-diagnosed ADHD (N = 72) in trios composed of father, mother, and affected offspring. The data suggested that ADHD was associated and in linkage with DXS7 locus.     

酵母双杂合系统AD端阴离子交换蛋白C-末端表达质粒的构建

利用PCR方法，从阴离子交换蛋白1（AE1）全长cDNA中扩增出约350bp c末端cDNA片段，测序后将其克隆至pGADT7载体上，用醋酸锂法构建好的pADT7-AE1-c末端转染酵母菌HA109，观察其在选择性培养基上的表达情况。结果表明，获得了530bp AE1c－末端cDNA,pGADT7-AE1-c末端对酵母无毒性，不能激活检测基因，可作为酵母双杂合系统中的靶基因。     

Kinetics of the phenotype and function of murine peritoneal macrophages following acute inflammation

This study was undertaken to have a better understand for the process and the underlying mechanisms to limitmacrophage activation and population of activated macrophages.A comprehensive kinetics of cytokineproduction was performed in murine peritoneal macrophages recovered from Balb/c mice at various timeduring the course of an intraperitoneal injection with thioglycollate (TG).The expression of cell surfacemolecules such as MHC-Ⅰ,MHC-Ⅱ,B7-1 and B7-2 of these macrophages were also determined by flowcytometry.The present findings of our research suggested that the population of activated macrophages and theactivation of macrophages (including cytokines production and expression of cell surface functional molecules)were strictly controlled during inflammation process.This is one of the important mechanisms to retain the hosthomeostasis.Cellular & Molecular Immunology.2004;1(1):57-62.     

GABRD encoding a protein for extra- or peri-synaptic GABAA receptors is a susceptibility locus for generalized epilepsies

A major challenge in understanding complex idiopathic generalized epilepsies has been the characterization of their underlying molecular genetic basis. Here, we report that genetic variation within the GABRD gene, which encodes the GABAA receptor delta subunit, affects GABA current amplitude consistent with a model of polygenic susceptibility to epilepsy in humans. We have found a GABRD Glu177Ala variant which is heterozygously associated with generalized epilepsy with febrile seizures plus. We also report an Arg220His allele in GABRD which is present in the general population. Compared with wild-type receptors, alpha1beta2Sdelta GABAA receptors containing delta Glu177Ala or Arg220His have decreased GABAA receptor current amplitudes. As GABAA receptors mediate neuronal inhibition, the reduced receptor current associated with both variants is likely to be associated with increased neuronal excitability. Since delta subunit-containing receptors localize to extra- or peri-synaptic membranes and are thought to be involved in tonic inhibition, our results suggest that alteration of this process may contribute to the common generalized epilepsies.