Objective To explore the electrophysiological and clinical features of various subtypes of Guillain Barr? syndrome (GBS). Methods The electrophysiological and clinical data of 100 cases with GBS admitted to Xijing Hospital from 1980 to 1999 were analyzed retrospectively. Correlations between varied subtypes and ages were examined by ? 2 test. Results Among the 100 patients with GBS, the demyelinating pattern was present in 51 patients, the axonal pattern in 25 patients, and 8 patients were inexcitable, 12 patients equivocal and 4 patients normal. The demyelinating pattern appeared as a major subtype not only in different age groups, but also in different test times after symptom onset. There was no statistically significant relationship between varied subtypes and ages. In the 100 patients, 32.0% suffered from a preceding upper respiratory infection, and 22.0% had a preceding gastrointestinal tract infection. The cases occurring in rural areas are almost in number equal to those in urban areas. That is, there was no a clear area distribution. Both demylinating and axonal GBS occurred throughout the year with a likely peak from July to September. Conclusion In the 100 patients with GBS admitted to Xijing Hospital, the demyelinating pattern was the major electrophysiological subtype. In addition, the electrophysiological and clinical features of various subtypes of GBS seemed to be different in some ways from those in the studies of both western countries and Li CY in northern China.

Objective To explore the efficient method in detection of DMD/BMD patients.Methods 18 deletion-prone exon fragments of DMD gene were amplified via molecular cloning. They were used as probes and were spotted on the slides treated with APES and poly-lysine together by manual operation to make microarray. In addition, fragments of ?-actin were used as positive contrast and those of pUC 19/EcoR I were used as negative. 30 DMD/BMD patients were detected for deletion in DMD gene with the microarray and 5 healthy people were done as normal control. Parts of the results were compared with PCR method.Results Different exon fragment deletion of DMD/BMD gene was detected in 21 patients by DNA microarray, and 10 of them were confirmed by PCR analysis.Conclusion DNA microarray assay is a convenient ,accurate and sensitive method in diagnosis of DMD/BMD patient.

BACKGROUND: Dystrophin gene is X-linkage recessive heredity nerve-muscle system disease. Dystrophin gene deletions cluster in two hotspot regions, comprising exons 2-20 and 44-53. The majority of deletions can be detected by examining only a subset of exons. However, little is known regarding systematic detection of 18 common deletion exons of dystrophin gene.OBJECTIVE: To obtain and identify the cloning of 18 deletion-prone exons of dystrophin gene.METHODS: A total of 18 fragments of dystrophin gene were obtained through polymerase chain reaction (PCR) amplification with human genomic DNA as template and 18 pairs of primers respectively. The fragments were connected with pGEM-T Easy vector.The recombinants were transformed into E.coli JM109 competent cells, followed by planted on Luria-Bertani (LB)/ampicillin(Amp)/isopropylthio-β-D-galactoside(IPTG)/X-bromo-4-chloro-3-indolyl-β-D-galactoside (X-Gal) plates and cultured.Positive transformants were selected with blue/white color screening, and the recombinant plasmids DNA was extracted and digested with restriction enzyme Not I. DNA sequences of the fragments were analyzed. Nucleotide analyses were performed through the National Center for Biotechnology Information (NCBI) Basic Local Alighment Search Tool (BLAST) against GenBank.RESULTS AND CONCLUSION: Size of the18 fragments by PCR amplification was in accordance with anticipation. Size of the fragments of recombinant cloning by Not I digestion was in accordance with that of PCR and expectation. Sequence size of the 18cloned fragments was in accordance with expectation. The cloned fragments have high homology with dystrophin gene through NCBI BLAST against GenBank. These cloned fragments were the main deletion-prone exons of dystrophin gene.

We reviewed 100 cases with Guillain-Barré syndrome (GBS) from 1980 to 1999, and found that the features of GBS in electrophysiological classification, age, area, seasonal distributions, and in preceding illness in northwestern China are different in some aspects from those in Europe and North America or in northern China. The demyelinating pattern appeares as a major subtype not only in different age groups, but also in different test times after symptom onset.

Objective To observe and analyze the mutation characteristics of 17 STR loci among the paternity test cases in Guangxi area .Methods Among 1 786 cases of non—exclusion parentage ,1 430 cases were parental triplet and 356 cases were uniparental diad ,1 001 persons were Han people ,2 102 persons were Zhuang people and 113 persons were other ethnic group in the parents .The genome DNA was extracted by Chelex-100 method .17 short tandem repeat (STR) loci were detected by Power Plex ? 18D System Kit .The paternity testing containing mutant STR loci were screened out from 1786 cases .The locus-specific ,specificity of paternal and maternal ,and allele-specific mutation rates were observed and analyzed ,respectively .The characteristics of the muta-tions were studied .Results In total ,75 mutations events were observed at 16 of the 17 loci .Among them ,73 (97 .34% ) times were one step mutation ,onece(1 .33% ) was two—step mutation ,and once(1 .33% ) was three—step mutation ,no mutation was found at the TPOX locus .The mutation rates ranged 0 .031 1% —0 .404 2% ,and the mean mutation rate was 0 .145 8% .The proportion of the paternal mutations and the maternal mutations was 5 .4:1 .0 ,the difference had statistical significance(P<0 .01) .and the mu-tation difference between Han people and Zhuang people had no statistical significance(P>0 .05) .Conclusion STR loci mutation is common phenomenon in paternity test .The data of STR loci mutations should be constantly accumulated for selecting the genetic characteristics in line with the Guangxi population and the genetic markers of STR loci with high identification ability to ensure ac-curate and reliable identification results .

Objective To study changes and significance of endothelin(ET) in rat cerebral concussion.Methods 80 Wistar male rats were used for animal model of cerebral concussion,which were sacrificed on 1,3,7,14 and 30 days after injury and the brain tissue were taken off. The expression of ET was studied in the course of cerebral concussion by means of immunohistochemistry.Results Typical clinical manifestation was observed in the 100 g group in which the pathological changes included cerebral vascular constriction and dilatation,congestion and edema of cerebral tissue,neuronal degeneration,necrosis,and obviously decreased even disappeared Nissl bodies.Increased expression of ET was observed on the first day,the positive area was seen in the plasma of endothelial cells in cerebral cortex,hippocampus,cerebellum and thalamus.ET expression peak occurred on the 7th day,the positive area was also found in the plasma of Purkinje cells in the cerebellum.Decreased ET expression was found on 14th day and returned to normal level on the 30th day.Conclusion The main pathological changes of cerebral concussion contained blood circulation disorder,and degeneration and necrosis of substantial cells.ET was involved in the brain tissue injury during the pathological process of cerebral concussion and might be related to regulation of cerebral vascular reaction,and neuron degeneration and necrosis.

OBJECTIVETo explore the molecular basis for a CD36 deficiency individual and distribution of CD36 gene mutation in Guangxi population.

METHODSA female individual was studied. CD36 phenotype was detected by monoclonal antibody immobilization of platelet antigens assay (MAIPA) and flow cytometry (FCM). The coding regions of the CD36 gene were sequenced. A DNA-based polymerase chain reaction-sequence specific primer (PCR-SSP) assay was used to verify the identified mutation. Cell lines expressing the mutant and wild-type CD36[CD36(MT) and CD36(WT)] were established, with the expression of CD36 determined by Western blotting. The distribution of CD36 gene mutation was investigated among 1010 unrelated individuals with the PCR-SSP assay.

RESULTSBoth MAIPA and FCM assays showed that the patient had type II CD36 deficiency. DNA sequencing showed that she has carried a heterozygous mutation T538C (Trp180Arg) in the exon 6 of CD36. Sequencing of cDNA clone confirmed that there was a nucleotide substitution at position 538 (538T>C). Western blotting also confirmed that the CD36 did not express on the CD36(MT) cell line that expressed the 538C mutant, but did express on the CD36(WT) cell line. The novel CD36 mutation T538C was further verified with 100% concordance of genotyping results by DNA-based PCR-SSP assay and 1010 unrelated individuals. No CD36 538C allele was detected among the 1010 individuals.

CONCLUSIONThis study has identified a novel CD36 mutation T538C(Trp180Arg)(GenBank: HM217022.1), and established a genotyping method for the novel sequence-specific primer PCR. The novel mutation is rare in Guangxi and can cause type II CD36 deficiency.

Base Sequence ; Blood Platelet Disorders ; genetics ; Blood Platelets ; cytology ; metabolism ; Blotting, Western ; CD36 Antigens ; genetics ; metabolism ; Cells, Cultured ; DNA Mutational Analysis ; DNA Primers ; genetics ; Exons ; genetics ; Female ; Flow Cytometry ; Fluorescent Antibody Technique ; Genetic Diseases, Inborn ; genetics ; Genotype ; Genotyping Techniques ; methods ; Humans ; Middle Aged ; Monocytes ; cytology ; metabolism ; Mutation, Missense ; Polymerase Chain Reaction ; methods