Mutation analysis of ATP13A2 gene in Chinese patients with familial autosomal recessive early-onset parkinsonism / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To investigate the mutation characteristics of ATP13A2 gene in Chinese patients with familial autosomal recessive early-onset parkinsonism (AREP).</p><p><b>METHODS</b>Mutations of ATP13A2 gene were screened by polymerase chain reaction combined with DNA direct sequencing in patients with familial AREP.</p><p><b>RESULTS</b>No pathogenic mutations in ATP13A2 gene were detected in this group. Six reported polymorphisms were identified. They were IVS6+70A>G, IVS12+66A>G, m.1849C>T, IVS20-56 G>A, m2671C>T and m2824G>A.</p><p><b>CONCLUSION</b>ATP13A2 gene mutations may be rare in Chinese patients with familial autosomal recessive early-onset parkinsonism.</p>

Mutation analysis of GCH1 gene in Chinese patients with dopa responsive dystonia / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To detect mutations of guanosine triphosphate cyclohydrolase I (GCH1) gene in Chinese patients with dopa responsive dystonia (DRD).</p><p><b>METHODS</b>Six sporadic patients with DRD were examined. GCH1 gene mutations were detected using polymerase chain reaction (PCR), DNA sequence analysis and restriction enzyme digestion analysis. One hundred normal people were detected using PCR and restriction enzyme digestion analysis.</p><p><b>RESULTS</b>A new point mutation, 151(G-->A) in exon one was found in a patient. It lead to substitution of a methionine for isoleucine at amino acid 1(M1I). This mutation was not found in normal control people.</p><p><b>CONCLUSION</b>The authors report a new heterozygotic point mutation 151(G-->A) in GCH1 gene. There are GCH1 gene mutations in Chinese sporadic patients with DRD.</p>

Mutation detection of parkin gene by denaturing high performance liquid chromatography / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To detect parkin gene mutation of early-onset parkinsonism (EOP) by denaturing high performance liquid chromatography (DHPLC).</p><p><b>METHODS</b>The blood cell genomic DNA of 82 EOP patients was isolated. Exons of parkin gene were amplified by PCR. The PCR products were detected by DHPLC. The sample with abnormal peak shape was sequenced.</p><p><b>RESULTS</b>Three point mutations were identified in 82 EOP patients compared with 100 healthy controls. Mutations in intron include IVS1-39 G --> T and IVS9 +18 C --> T. The T1422C mutation was in coding region and resulted in 441 Cys --> Arg.</p><p><b>CONCLUSION</b>Three heterozygous mutations are found in sporadic EOP patients and genetic diagnosis of parkin gene by DHPLC is applicable in EOP patients.</p>

The wild-type alpha-synuclein over-expression to induce the protein aberrant aggregation of alpha-synuclein in HEK293 cells in vitro / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To investigate over-expression of wild-type alpha-synuclein inducing the aberrant aggregation of alpha-synuclein in HEK293 cell in vitro.</p><p><b>METHODS</b>The cDNA encoding the human alpha-synuclein without the stop code was cloned into PGEM T-easy vector. Using enzyme map and DNA sequencing analyzed and determined the recombinant plasmid, and then sub-clone the alpha-synuclein cDNA fragment into pEGFP-N1 vector. The recombinant plasmids alpha-synuclein-pEGFP were transfected into HEK293 cells by lipofectamin 2000. The aberrant aggregation of alpha-synuclein was measured by EGFP fluorescence, anti-alpha-synuclein immunocytochemistry. The inclusions in the cultured cells were identified with HE staining.</p><p><b>RESULTS</b>The restriction enzyme map suggested that eukaryotic expression vector for human wild-type alpha-synuclein gene was constructed successfully. By EGFP fluorescence, anti-alpha-synuclein immunocytochemistry, it could be observed that the alpha-synuclein protein could aggregate in cytoplasm and the Lewy body-like inclusions found in cytoplasm of cultured cells.</p><p><b>CONCLUSION</b>The over-expression of wild-type alpha-synuclein can induce protein aberrant aggregation and Lewy body-like inclusions formation in cytoplasm of HEK293 cell in vitro.</p>

Genotype and phenotype analyses of three families with autosomal recessive juvenile parkinsonism / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To investigate the gene mutations and the clinical features of Chinese patients with autosomal recessive juvenile parkinsonism(AR-JP).</p><p><b>METHODS</b>the polymerase chain reaction (PCR), DNA sequence analysis, and restriction enzyme digestion analysis were applied to check parkin gene mutations of 15 index patients from 15 families with AR-JP.</p><p><b>RESULTS</b>Three families were detected to have parkin mutations. Two of them had heterozygous deletion mutations (202-203 del AG in exon 2, 1069-1074 del GTGTCC in exon 9) and another of them carried a heterozygous missense mutation [1422(T-->C) in exon 12]. Two of the mutations [1069-1074delGTGTCC and 1422(T-->C)] were not reported previously. There were six patients in the three families. Mean age at onset was 25.2+/-5.7 years, ranging from 18 to 31 years. The symptoms were under slow progression, diurnal fluctuation with sleep benefit, and hyperreflexia were relatively prominent. Response to levodopa was satisfactory.</p><p><b>CONCLUSION</b>There are parkin mutations happened in Chinese patients with AR-JP. Patients with parkin mutations have distinct clinical features besides the common clinical features of Parkinson's disease.</p>

Clinical and mutational analysis of KCNQ3 gene in a Chinese family with benign familial neonatal convulsions / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To study the clinical and genetic characteristics of a Chinese family with benign familial convulsions (BFNC).</p><p><b>METHODS</b>The clinical data of this family was analyzed. The blood samples were collected from 13 members of this family. By four microsatellite markers which are located in the gene loci of both K+ channel KCNQ2 and KCNQ3, the linkage analysis was performed in the family. With DNA direct sequencing and restriction endonuclease cutting analysis, the mutation analysis of KCNQ3 gene was made for the proband, other 12 family members and 76 unrelated normal individuals.</p><p><b>RESULTS</b>There were 7 patients with BFNC observed in the three generation of family. The BFNC seizures of all patients disappeared during one month and no recurrence of seizures was found. The linkage analysis suggested the disease gene linked to KCNQ3 gene locus in the family. The mutation 988(C to T) of KCNQ3 gene was found in the proband by DNA-direct sequencing. Cosegregation of this mutation with BFNC was confirmed by restriction endonuclease cutting analysis.</p><p><b>CONCLUSION</b>Chinese patients with BFNC can be caused by KCNQ3 gene mutation.</p>

Fast image denoising based on mathematical morphology / 中国医疗器械杂志

There is a contradiction between image denoising and protection of the useful information in the image. To deal with this contradiction, we use the approach of mathematical morphology. In this paper, we expound the method and effectivity of mathmatical morphology in image processing. Based on it, an improved and fast image denoising algorithm is proposed and some experiments have been made to show that this algorithm is simple, effective and feasible.

Mutation analysis of DJ1 gene in patients with autosomal recessive early-onset Parkinsonism / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To investigate the mutation characteristics of DJ1 gene in Chinese patients with autosomal recessive early-onset Parkinsonism (AR-EP).</p><p><b>METHODS</b>Mutations of DJ1 gene were screened by polymerase chain reaction combined with DNA direct sequencing in index patients with AR-EP from 11 unrelated families.</p><p><b>RESULTS</b>No pathogenetic mutations in the DJ1 gene were detected in this group. Six intronic DJ1 polymorphisms (IVS1-15T-->C, IVS4+30T-->G, IVS4+45G-->A, IVS4+46G-->A, IVS5+31G-->A, g.168-185del) were found. Three of them (IVS1-15T-->C, IVS4+45G-->A, IVS4+46G-->A) were not reported previously.</p><p><b>CONCLUSION</b>DJ1 mutations were rare in Chinese patients with autosomal recessive early-onset Parkinsonism.</p>

Design and research on the measure analysis and QA system of gamma knife dose field / 中国医疗器械杂志

The measure analysis and QA system for gamma knife dose field and its pivotal techniques are described in this paper. By using our own measuring tools and analysis software, we have made a testing analysis about the HuaYuan Gamma Knife dose field with a satisfactory result.

A rapid searching calculation of radiation dose distribution based on the region growing algorithm in 3D for CT-robot gamma knife / 中国医疗器械杂志

This paper presents a rapid searching algorithm for dose calculation based on the region growing algorithm. Using this algorithm, we can automatically and rapidly search out the dose computational region for the gamma knife, so as to reduce the computational time, and space complexity.

Proteasomal inhibitor induces PINK1 aggresome formation and aggregating features / 中华神经科杂志

Objective To study the PINK1 aggresome formation and it's features in response to proteasomal inhibition.Methods Full-length PINK1 cDNA were amplified by polymerase chain reaction (PCR)from fetus brain cDNA library and subcloned into the EcoR I and BamH I sites of the vector pEGFP- N1.The integrity of the constructs was confirmed by sequencing.COS-7 cells were transiently transfected with PINK1-pEGFP-N1 using Lipofectamine 2000.Cells were treated by MG-132 in order to test the effect of proteasome inhibition on aggregation formation.The protein level of wild-type PINK1 with or without MG-132 treatment was confirmed by Western blot analysis.The formation of PINK1 aggregates was tested by fluorescence and the presence of ubiquitin,and ?-synuclein in PINK1 aggregates was examined by immunofluorescence and confocal microscopy.Results The expression level of PINK1 was significant increased into the form of aggregate in cells treated with MG-132;immunostaining for endogenous ubiquitin and ?-synuclein revealed a co-localization of both proteins in PINK1-positive aggregates.Conclusions In the presence of MG-132,overexpressed PINK1 forms into aggregates,whose components are ubiquitin and ?-synuclein.