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Objective To identify disease-causing mutations in a large panel of Chinese Han patients with hereditary spastic paraplegia(HSP).Methods The coding sequence of the SPG11 gene in the probands of 28 families with ARHSP and 14 sporadic HSP patients was analyzed,and the identified changes in the sequence were tested to exclude being a benign polymorphism by sequencing 200 chromosomes from normal controls.Results Identified 13 causative mutations in SPG11 gene in 7 ARHSP and 3 sporadic HSP The mutations were:c.5977C>T/p.Q1993X、c.4668T>A/p.Y1556X、c.6898_6899delCT/p.L2300AfsX23.38、c.3719_3720delTA/p.11240VfsX263、c.733_734delAT/p.M245VfsX246、c.7088_7089insATTA/p.Y2363X、c.2163_2164insT/p.1722Yfsx731、c.7101-7102insT/p.K2368X、c.6790_6791insC/p.12264PfsX2339、c.654_655delinsG/p.S218RfsX219、c.7151+4_7151+7delAGTA/p.K2384fsX2386、c.6355-21_6355-18delTCT、c.3004C>T/p.G1002X.Among them,12 were novel mutations.The rate of mutation in the SPG11 gene was 25.0%(7/28)in ARHSP,6/6 in ARHSP-TCC and 3/14 in sporadic cases.Conclusions In Chinese Han population,patients with ARHSP-TCC and sporadic HSP-TCC should be screened for SPG11.Sequencing of the SPG11 gene in these patients with is valuable for clinical diagnostic testing.
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<p><b>OBJECTIVE</b>To study the single-nucleotide substitution (c.-16C to T) of the PURATROPHIN-1 gene in spinocerebellar ataxia (SCA) patients in China.</p><p><b>METHODS</b>The single-nucleotide substitution (c.-16C to T) of the PURATROPHIN-1 gene was detected by PCR, digested with EcoN I, separated on 8% polyacrylamide gel in 68 probands of autosomal dominant SCA families and 119 sporadic SCA patients, who had been excluded CAG/CAA repeat expansion at the SCA1, 2, 3, 6, 7, 17 and dentatorubral-pallidolluysian atrophy (DRPLA) loci. The results were confirmed in four patients by direct sequencing.</p><p><b>RESULTS</b>The single-nucleotide substitution (c.-16C to T) of the PURATROPHIN-1 gene was not identified in authors' cohort.</p><p><b>CONCLUSION</b>The mutation of c.-16C to T of the PURATROPHIN-1 gene might be rare in SCA patients in China.</p>
Subject(s)
Humans , Asian People , Genetics , Cohort Studies , Guanine Nucleotide Exchange Factors , Genetics , Mutation , Polymerase Chain Reaction , Polymorphism, Single Nucleotide , Spectrin , Genetics , Spinocerebellar Ataxias , GeneticsABSTRACT
Background Left atrium size was reported as a marker for ventricular diastolic dysfunction and predictive risk factors for cardiovascular disease.Objective To analyze the relations between left atrial(LA) size and left ventricular(LV) diastolic function echocardiographically in rabbit model with LV dysfunction while with normal LVEF.Methods LV pressure overloaded animal model was established by abdominal aorta constriction in 18 New-Zealand rabbits(model group) which developed LVH with normal EF with 8 healthy rabbits as normal controls.LA dimension and volume(LAD,LAV),left ventricular dimension(LVD) and wall thickness(IVST,PWT),Transmitral inflow E and A,and mitral annulus velocities Ea and Aa were determined by echocardiography.LVEDP was measured within 24 hours after echo examination by catheterization.Results ①Increased LVD,IVST,PWT and LA size were found in model group(P
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Objective To study the effects of Jianwei Yuyang granule on TGF-? 1 expression in the healing process of rat gastric ulcer induced by acetic acid. Methods Animal model of gastric ulcer in rat was set up with the modified Okabe's method, and the TGF-? 1 expression in the gastric ulcerated tissues was detected by immunohistochemical technique. Results TGF-? 1 expression in gastric ulcerated tissues during the healing process in Jianwei Yuyang group significantly increased compared with the normal, model and famotidine treatment groups. Conclusion TGF-? 1 expression in gastric ulcerated tissues induced by acetic acid during the healing process significantly increased,especially in Jianwei Yuyang group. Jianwei Yuyang granule may accelerate gastric ulcer healing by increasing TGF-? 1 expression in gastric ulcerated tissues.
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Objective To investigate the protective effects and its mechanism of Jianwei Yuyang Granule (JYG) on gastric mucosa of experimental gastric ulcer rats. Methods The model of gastric ulcer was established by the modified Okabe’ s method.The ulcer index was recorded, and the expression of IL- 1? and bFGF was determined with histochemistry. Results The ulcer index of JYG group was significantly lower than that of model group and famotidine group (P