Objective To identify a locus at chromosome coding for hereditary palmoplantar keratoderma of three Chinese pedigrees.Methods The genome scan was conducted with microsatellite markers on chromosome 12(D12S85、D12S368、D12S83、D12S345)and 17(D17S1868、D17S787、D17S1857、D17S798、D17S944、D17S949)respectively on the ABI 3100 Genetic Analyzer(Applied Biosystems).Two-point LOD score was calculated.Results The maximum two-point LOD score 6.59 and 5.96 at ?=0.1 were obtained at D17S1868 and D17S787 on chromosome 17q12～q21.It is an evidence of linkage between this disease and KRT9 which has been mapped within the region.Conclusion There is a locus responsible for this disease on chromosome 17q12～q21.

Objective To observe the effect of virtual reality robotic hand on hand motor function and activities of daily living of pa-tients after stroke. Methods From June, 2015 to June, 2016, 32 patients with hand motor dysfunction were assigned into experimental group (n=16) and control group (n=16). The experimental group received training with virtual reality robotic hand and hand based rehabilitation, while the control group received hand based rehabilitation only, for four weeks. They were evaluated with Fugl-Meyer Assessment (FMA) of fingers and wrists and modified Barthel index (MBI) before and after treatment. Results The total score and the scores of items of FMA and MBI improved after treatment in the experimental group (Z>3.45 or t>3.45, P<0.01). The total score and the scores of the finger, wrist of FMA, and the scores of the eating, dressing and grooming of MBI improved in the control group (Z>2.07 or t>4.18, P<0.05). The total scores and scores of the items of FMA and MBI improved more in the experimental group than in the control group (Z>2.14 or t>3.20, P<0.05). Conclusion Virtual reality robotic hand training can promote the recovery of hand function and activities of daily living in patients af-ter stroke.

Objective To study the clinical characteristics and genetic cause of a Chinese family affected with paroxysmal kinesigenic dystonia(PKD).Methods The detailed clinical data and the blood samples of the affected patients with PKD and their relatives were collected.After genomic DNA was extracted from blood leukocytes,target linkage analysis Was performed using multiplex PCR by microsatellite marker's located in the reported critical region on chromosome 16.All exons and flanking regions of SCNN1G and ITGAL genes were amplified by PCR-sequence.Results In this three-generation 12 member family,5 individuals have been diagnosed as PKD.Target linkage analysis suggested the disease gene linked to chromosome 16.between D16S3396 and D16S3057 with two-point LOD score of 1.47 at recombination fraction(θ)=0.0.All affected individuals shared a common haplotype which co-segregated with the phenotype.Except for 8 reported SNPs,no pathologic sequence variants were found in candidate genes SCNN1G and ITGAL.Conclusions The studied family is genetically linked to the reported critical locus of PKD on chromosome 16.SCNN1G and ITGAL were ruled out as the causative genes for the studied pedigree.Further genetic analysis in this family may reveal new genetic cause responsible for PKD.

Objective To investigate the relationship between the single nucleotide polymorphisms(SNPs) of disrupted in schizophrenia 1 (DISC1) gene and autism in Chinese Han children.Methods Genome-wide SNP genotyping was performed by using Illumina HumanHap CNV370-Duo Chip in 278 autistic trios,157 autistic individuals and 435 healthy controls.Genotype data of SNPs within DISC1 gene were selected.The association between these SNPs loci and autism was analyzed through case-control association analysis and family-based transmission disequilibrium test.Results Fifty-two SNPs were involved for further analysis.1.Case-control association analysis showed that 6 SNPs (rs4658939,rs2793093,rs10495309,rs2492367,rs1 1122362,rs1073179) and 7 haplotypes (AGAAAG constructed with rs823163-rs823161-rs4658933-rs1417585-rs10864693-rs6541281,GGG and AAA constructed with rs4658939-rs2793093-rs10495309,GG and AG constructed with rs2492367-rs12046794,GAA constructed with rs9432040-rs2356606-rs1 1122362 and GG constructed with rs9431714-rs1073179) had significant differences between autistic patients and controls(x2 =4.704,4.915,5.568,8.087,4.043,5.183,5.369,5.295,4.440,5.304,7.615,4.018,4.811,P =0.030,0.027,0.018,0.005,0.044,0.023,0.021,0.021,0.035,0.021,0.006,0.045,0.028).2.In the transmission disequilibrium test analysis,2 SNPs (rs4658945,rs11122362) and 2 haplotypes (AG constructed with rs10495310-rs4658945,GAA constructed with rs9432040-rs2356606-rs11122362) showed significant transmission disequilibrium(x2=4.445,5.400,3.973,5.126,P =0.035,0.020,0.046,0.024).Conclusions The polymorphism of rs11122362 and GAA haplotype constructed with rs9432040-rs2356606-rs11122362 are associated with autism,and DISC1 gene is a susceptibility gene for autism in Chinese Han children.

Autism is a group of etiology and clinical heterogeneous neurodevelopmental disorders with an onset before 3 years old. It has 3 core characteristics: deficits in verbal communication; impairment of social interaction; restricted interests and repetitive behaviors. The incidence is increasing over time worldwide. Twin and family studies have demonstrated that autism has a high heritability (>90%). Although certain progress of autism genetic study has been made in the last decades and several autism susceptibility genes and loci have been identified, there are still about 70%-80% of patients for whom an autism-related genetic change cannot be identified.
Autistic Disorder ; genetics ; Child, Preschool ; Epigenomics ; Genetic Heterogeneity ; Humans ; Infant

To set up a method of amplification for the whole CagA gene of Helicobacter pylori and its fingerprinting by restriction fragment length polymorphism (RFLP), nested PCR was employed in combination with TD-PCR to amplify the gene and EcoRI and Hind III were used to generate the RFLP fingerprinting. Target DNA fragments from 13 of 20 samples were successfully amplified and the relevant RFLP fingerprintings were obtained. It is concluded that the method can be used to amplify the whole CagA gene and CagA gene has apparent diversity of RFLP profile.
Antigens, Bacterial/*genetics ; Bacterial Proteins/*genetics ; DNA Fingerprinting/methods ; Gene Amplification/*genetics ; Helicobacter pylori/*genetics ; Helicobacter pylori/isolation & purification ; *Polymorphism, Restriction Fragment Length

The objective of this study was to characterize the genome structure of duck hepatitis B virus (DHBV) isolated from Hubei brown ducks. The natural carrier rate of DHBV in adult ducks from Hubei area was investigated and the DHBV DNA-positive serum screened out. The complete genome of a DHBV strain was amplified by polymerase chain reaction (PCR) and cloned into T vector and sequenced. The results showed that the carrier rate of DHBV in Hubei brown ducks was 10 %. This strain (GenBank accession number DQ276978) had a genome of 3024 nucleotides with three overlapping open reading frames encoding the surface, core and polymerase proteins respectively. Comparison of the strain with 17 DHBV strains registered in GenBank revealed a homology from 89.3 % to 93.5 % at the nucleotide level. The sequences of the structural and functional domains of these proteins were highly conserved. The strain was found to share more signature amino acids in the polymerase genes with the "Chinese" DHBV strains than those of the "Western" country strains. This finding was also corroborated by a phylogenetic tree analysis. Therefore, the DQ276978 might belong to a subtype of the Chinese DHBV strains.

Objective:Mutation in the gap junction beta 6 (GJB6) gene has been reported to be associated with an autosomal dominant disorder hidrotic ectodermal dysplasia (HED), characterized by congenital nail clubbing, alopecia and palmoplantar keratoderma. The aim of this study is to investigate relationship between genetic mutation in GJB6 and HED in an affected Chinese family.
Methods:We selected a Chinese HED family consisting of a total of 17 individuals including 8 HED patients (5 males and 3 females). The whole coding region of GJB6 was amplified by polymerase chain reaction and sequenced.
Results:Sequence analysis identified a heterozygous missense mutation c.31G>A (p.G11R) in GJB6 gene of affected individuals, but not in healthy individuals.
Conclusion:A c.31G>A (p.G11R) missense mutation in GJB6 gene is the genotypic characteristic for HED in Chinese population.

Objective To study the effects of the rehabilitation robot-assisted task-oriented training on the hand function in patients after stroke. Methods From June, 2015 to September, 2016, 35 inpatients suffering from stroke were randomly allocated to control group (n=17) and trial group (n=18). Based on the routine rehabilitation, the trial group accepted robot-assisted task-oriented training, while the control group accepted therapist-assisted task-oriented training, for two weeks. They were measured the active range of motion (AROM) of fingers, assessed with fingers motor of Fugl-Meyer Assessment (FMA) and modified Barthel Index (MBI) invovled with hands before and after train-ing. Results The inpatients dropped three in the control group, two in the trial group. AROM of extension and flexion of all the fingers, the AROM of extension and total of three fingers of thumb, index and middle, and the total AROM of each finger improved in the trial group af-ter training (t>2.937, P<0.05), while the AROM of extension and flexion of all the fingers, AROM of extension, flexion and total of the fin-gers of thumb, index and middle, total AROM of the fingers of thumb, index and little improved in the control group after training (t>2.528, P<0.05);the AROM of extension and total of the fingers of thumb, index and middle, and the total AROM of fingers of thumb and index im-proved more in the trial group than in the control group (t>2.535, P<0.05). The scores of mass flexion, mass extension, opposition, cylinder grip, spherical grip and total score of FMA improved in the trial group after training (Z>2.000, P<0.05), while the scores of mass extension, opposition and the total score of FMA improved in the control group after training (Z>2.000, P<0.05). There was no significant difference between the two groups on the items and total scores after training (P>0.05). The scores of feeding, dressing, toilet transfers, bathing, groom-ing of MBI and the total score of them improved in the trial group after training (Z>2.041, P<0.05), while the total score of MBI improved in the control group after training (Z=-2.527, P<0.05). There was no significant difference between the two groups in the items and total scores after training (P>0.05). Conclusion The rehabilitation robot-assisted task-oriented training can improve AROM of hemiplegic fingers and grip function.

OBJECTIVETo investigate the mutation characteristics of ATM gene in Chinese patients with ataxia-telangiectasia (AT).

METHODSMutation of ATM gene was screened by polymerase chain reaction, reverse transcription-polymerase chain reaction, polyacrylamide gel electrophoresis combined with DNA direct sequencing in two Chinese AT patients.

RESULTSA missense mutation of 1346(G>C) in exon 11, which was a homozygotic mutation, was identified in one patient; a nonsense mutation of 610 (G>T) in exon 6 combined with a missense mutation of 6679 (C>T) in exon 47, which was a compound heterozygotic mutation, were identified in the other patient. They were co-segregated with the disease and were localized within the functional domain of ATM gene.

CONCLUSIONTotally three novel ATM gene mutations were identified in two Chinese AT patients.

Ataxia Telangiectasia Mutated Proteins ; Base Sequence ; Cell Cycle Proteins ; genetics ; Child ; China ; Codon, Nonsense ; DNA Mutational Analysis ; DNA-Binding Proteins ; genetics ; Female ; Gene Frequency ; Humans ; Male ; Mutation ; Mutation, Missense ; Protein-Serine-Threonine Kinases ; genetics ; Reverse Transcriptase Polymerase Chain Reaction ; Spinocerebellar Ataxias ; genetics ; Tumor Suppressor Proteins ; genetics