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Polymorphism analysis of PARK2 gene mutations in Han Chinese patients with early-onset Parkinson's disease

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Neural Regeneration Research 2010年第20期5卷 1578-1582页

作者： Yuancheng Bao Ting Guan Yuanxun Yu Huaizhou Jiang changshui fang Lijuan Chen Department of Neurology First Affiliated Hospital of Anhui Traditional Chinese Medical College Hefei 230031 A nhui Province China Anhui Center for Medical Genetics Hefei 230061 Anhui Province China School of International Education & Exchange Anhui Traditional Chinese Medical College Hefei 230031 Anhui Province China

The PARK2 gene is a common disease gene in Han Chinese patients with Parkinson＇s *** detection of mutations in the PARK2 gene remains *** investigate the role PARK2 gene mutations play in the pathogenesis of Parkinson＇s disease,30 Han Chinese patients with early-onset Parkinson＇s disease and 38 normal controls were studied to determine the sequence changes of 1,4,6 and 7 exon *** the 30 patients with Parkinson＇s disease,a heterozygous intron mutation（nt 119,G→G/A）in exon 1 was detected in one case;a homozygous intron mutation（nt 526500,T→C）between intron 3 and exon 4 in fourteen cases was found;a heterozygous intron mutation（nt 526607,G→G/A）between intron 3 and exon 4 was observed in eight cases;an exon 6missense mutation（nt 754317,C→C/T;codon 193,CGG→CGG/TGG;aa 193,Arg→Arg/Trp）in three cases was seen;and an exon 7 missense mutation（nt 941943,C→A/C;codon 272,CTC→CTC/ATC;aa 272,Leu→Leu/lle）was found in one *** changes were not found in the normal *** results indicated that the PARK2 exons 6 and 7 mutations are possibly pathogenic mutations,along with the intron 3-exert 4 and exon 1 ***2 gene mutations are possible factors leading to the onset of Parkinson＇s disease.

关键词： Parkinson's disease PARK2 gene DNA mutation oxen intron

Novel ATP7B gene mutations in Chinese Han patients with hepatolenticular degeneration

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Neural Regeneration Research 2010年第12期5卷 933-937页

作者： Yuancheng Bao Lijuan Chen Yuanxun Yu Huaizhou Jiang Ting Guan changshui fang Department of Neurology FirstAffiliated Hospital of Anhui Traditional Chinese Medical College Hefei 230031 Anhui Province China Anhui Center for Medical Genetics Hefei 230061 Anhui Province China

BACKGROUND： ATP7B gene exon 8 Arg778Leu and exon 12 Arg952Lys are gene mutation hot spots in Chinese Han patients with hepatolenticular degeneration, or Wilson＇s disease （WD）. However, the gene fragments are too short for detection and the mutation detection rate remains low. OBJECTIVE： To analyze DNA sequences of ATP7B gene exon 8-exon 9 and exon 10-exon 12 sections. DESIGN, TIME AND SE＇I-rlNG： A concurrent, non-randomized, controlled, genetic polymorphism study was performed at the Anhui Medical Genetics Center, Anhui, China from March to July in 2009. PARTICIPANTS： Fifty patients, who were admitted to the Department of Neurology at the First Affiliated Hospital of Anhui Traditional Chinese Medical College between March and July in 2009, were diagnosed with WD. The WD group comprised 32 males and 18 females, with an average age of （18.8 ± 8.3） years. WD was confirmed by clinical observation, as well as physical, imaging, and biochemical examinations, including testing for serum copper, ceruloplasmin, and copper oxidase. The control group comprised 20 normal subjects, who underwent physical examination at the First Affiliated Hospital of Anhui Traditional Chinese Medical College, and included 13 males and 7 females, with an average age of （27.9 ± 2.4） years. All subjects were Chinese Han population. METHODS： Genomic DNA was extracted from 50 WD patients and 20 normal controls. Polymerase chain reaction amplification of ATP7B gene exon 8-exon 9 （about 1 100 bp） and exon 10-exon 12 （about 850 bp） segments was performed. DNA exon-intron amplification products from all subjects were processed through direct bidirectional sequencing, and sequencing results were analyzed. MAIN OUTCOME MEASURES： Sequence changes of ATPTB gene exon 8-exon 9 and exon 10-exon 12 segments. RESULTS： In the 50 included WD patients, ATP7B gene intron 8 nt53592A → G with nt53671G→ A homozygous mutation was detected between exon 8-exon 9 in seven cases; exon 8 Arg778Leu mutations with Leu770Leu sy

关键词： hepatolenticular degeneration Wilson's disease gene DNA mutation copper metabolism genetics neural regeneration

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斜切对ATGSP热释电晶体优值的影响

红外研究(A辑) 1988年第1期7 A卷 47-50页

作者：王民李世纯房昌水山东大学

分析并测量了斜切对ATGSP热释电晶体响应率优值和探测率优值的影响,指出斜切可以增加热释电电压响应率,但不能改善其探测率。

关键词：优值热释电晶体热释电电压响应率 ATGSP 探测率热释电探测器

STUDY ON CONTRADICT DOMAINS AND THEIR CHARACTERISTICS

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Chinese Science Bulletin 1988年第9期33卷 737-741页

作者：王民房昌水 Institute Of Crystal Materials Shandong University Jinan

Ⅰ. INTRODUCTION In triglycine sulfate [（NH2CH2COOH）3·H2SO4, abbreviated as TGS] and crystals of the same kind （with hydrogen bond）, there are 180°-paralleled domain. Either the spontaneous polarization Ps of all the domains are arranged in the same direction （single domain, Fig. 1 a）, or the neighbouring domains are arranged in opposite directions （multi-domain, Fig. 1 b）. Multi-domain can be changed

关键词： abbreviated spontaneous directions opposite interested adding transformed unstable inverse charges

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纳米微晶/聚合物复合材料介电性的表征

光电子．激光 1999年第4期10卷 340-343页

作者：史伟郭世义房昌水许东任诠山东大学晶体材料国家重点实验室济南250100 山东大学光学系济南250100

在全面考虑纳米（ｎｍ）微晶与聚合物所形成的复合材料的极化机构情况下，对纳米微晶和聚合物分别采用Ｄｅｂｙｅ和ＮＨ函数弛豫理论，用Ｏｎｓａｇｅｒ有效场理论详细计算了该类复合材料的复介电常数的频率响应。制备了纳米复... 详细信息

在全面考虑纳米（ｎｍ）微晶与聚合物所形成的复合材料的极化机构情况下，对纳米微晶和聚合物分别采用Ｄｅｂｙｅ和ＮＨ函数弛豫理论，用Ｏｎｓａｇｅｒ有效场理论详细计算了该类复合材料的复介电常数的频率响应。制备了纳米复合材料薄膜ＰＴ／ＰＥＫ Ｃ。由以上理论结果模拟出的纳米复合薄膜的介电性和测量结果有较好的一致性。

关键词：纳米微晶聚合物复合材料弛豫介电常数