gene diagnosis

The useful information is provided from PCR-SSCP and sequencing for making gene diagnosis to corneal dystrophy.

PCR－SSCP结合DNA测序是检测BIGH3基因突变的简单、有效方法，有利于从分子学水平对角膜营养不良进行诊断分析，为优生优育及基因治疗提供依据。

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Once a germline mutation is determined in a family, it is easy to conduct gene diagnosis and risk prediction.

在一个家系中一旦确定RB基因生殖细胞性突变，则很容易对患者同胞及子女作出明确基因诊断与风险预测。

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Gene diagnosis of hereditary methemoglobinemia from a Chinese pedigree

遗传性高铁血红蛋白一家系的基因诊断

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X-linked agammaglobulinemia: a case report and literature review Gene diagnosis of X-linked agammaglobulinemia

X连锁无丙种球蛋白血症的基因诊断X-连锁无丙种球蛋白血症一例报告及文献复习

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Gene diagnosis of MJD/ SCA3 based on fragment analysis with capillary electrophoresis

基于毛细管电泳片段分析的MJD/SCA3基因诊断

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Study on characteristics of gene structure and gene diagnosis of facioscapulohumeral muscular dystrophy using pulse field gel electrophoresis

应用脉冲场电泳技术研究面肩肱型肌营养不良症的基因突变特征及进行基因诊断

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The result of a postnatal examination on this fetus coincided with our prenatal gene diagnosis.

胎儿出生后检查结果与与产前基因诊断相吻合.

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Application of the Bgl ⅱ-Bln ⅰ dosage test to gene diagnosis of facioscapulohumeral muscular dystrophy 1A gene

BglⅡ-BlnⅠ剂量检测方法在面肩肱型肌营养不良症1A基因诊断中的应用

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It was a way of antenatal diagnosis and gene diagnosis for patients with or without symptom of spinocerebellar ataxias. Results: The gene types of spinocerebellar ataxias could be a preliminary determined by 3% agarose gel electrophoresis.

结果：1.所采用的PCR扩增方法能够进行脊髓小脑性共济失调1-3,6-7和12的基因诊断。3%琼脂糖凝胶电泳可用于初步判定患者的基因亚型。

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Prenatal gene diagnosis in high danger families with Duchenne muscular dystrophy

Duchenne肌营养不良症高风险家系的产前基因诊断

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Molecular Diagnosis of Haemophilia A: Analysis of Factor ⅷ Gene Rearrangements

血友病A的分子诊断：因子Ⅷ基因重排分析

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Objective To detect dystrophin gene deletion of Duchenne muscular dystrophy ( DMD) and make DMD gene diagnosis.

目的探讨Duchenne型肌营养不良症（DMD）患者基因缺失的突变特点并进行基因诊断。

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Gene diagnosis of factor ⅷ gene inversion by LD-PCR for 60 patients with severe hemophilia A

应用长距离PCR技术对60例重型血友病甲进行Ⅷ因子基因倒位的基因诊断

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Prenatal gene diagnosis of β-thalassemia by allele-specific polymerase chain rection

用等位基因特异性PCR进行β-地中海贫血产前基因诊断

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Polymorphism of microsatellite DNA within F ⅷ gene of Chinese hans in Jiangsu Province and its application in gene diagnosis

江苏汉族人群FⅧ基因内微卫星DNA多态性研究及其在基因诊断中的应用

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Results : Gene medication , gene diagnosis and gene therapy were clinical used.

结果基因药物, 基因诊断和治疗已在临床上取得一定应用.

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Development of a gene diagnosis assay for genotyping human papillomavirus using multiple suspension array

应用液态悬浮芯片技术建立HPV基因分型方法

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And it has got results in the field of medicine, such as gene diagnosis, gene therapy.

基因技术在医学领域取得了许多新突破, 如基因诊断 、 基因疗法等.

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This result showed that PCR-SSCP analysis could be effectively used for the direct gene diagnosis of phenylketonuria.

PCR-SSCP分析法可有效地用于苯丙酮尿症的基因诊断。

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Significance of gene diagnosis by PCR-STR and PCR-SSCP in phenylketonuria

PCR-STR和PCR-SSCP方法对苯丙酮尿症基因诊断的意义

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The principles, immobilized techniques, choice of indicators and application of DNA electrochemical sensor in gene diagnosis, medical analysis were described and the future development was predicted. ( 45 references cited).

介绍了其基本原理、探针固定技术、杂交指示剂的选择及其在基因诊断、药物分析、环境监测等方面的应用，对发展方向作了概括。

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Gene Diagnosis and CAG Repeat Analysis of Spinocerebellar Ataxia Cases of Guangxi Region Treating Four Refractory and Relapse Acute Myelocytic Leukemia Patients with Sequential Dual Induction Chemotherapy: FA Combined with Priming Chemotherapy

脊髓小脑性共济失调病人的基因诊断和CAG重复扩增研究FA+CAG序贯双诱导治疗复发难治急性髓系白血病4例

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This study has established the foundation for control Porcine infectious pleuropneumonia in immune prevention, subunit vaccine and PCR diagnosis based on Apx ⅳ gene.

该研究为猪传染性胸膜肺炎的免疫预防、亚单位疫苗的研制及基于ApxⅣ的PCR检测奠定了基础。

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AIM: To perform gene diagnosis for female and fetal carriers as well as prenatal diagnosis in a family of Becker's progressive muscular dystrophy ( BMD).

目的：对一个假肥大型进行性肌营养不良症（beckermusculardystro-phy，BMD）家族中的女性和胎儿进行携带者和产前基因诊断。

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PCR in the gene diagnosis of Charcot-Marie-Tooth disease

聚合酶链反应技术在腓骨肌萎缩症基因诊断中的应用

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Objective To find out the polymorphism distribution of St14 ( DXS52) variable number of tandem repeat ( VNTR) in normal individuals in the northeastern regin of China and hence provide a proof for the gene diagnosis of hemophilia A.

目的探讨中国正常人群St14（DXS52）位点VNTR多态分布，为甲型血友病基因诊断提供依据。

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Objective To establish a gene diagnosis assay for spinal muscular atrophy ( SMA ) in children.

目的探讨儿童脊髓性肌萎缩症 ( SMA ) 的特异性基因诊断方法.

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The clinical features of the spinocerebellar ataxia include ataxa, dysarthria, dysmetria et al. The gene diagnosis can be used as diagnostic criteria and the detection of repeats times of CAG can provide an effective way for the genetic and presymptomatic diagnosis.

临床特征有共济失调、构音障碍，基因诊断是一种准确的诊断方法和标准，CAG重复序列数目的检测对于基因诊断和症状前诊断是一种十分有效的方法。

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Gene diagnosis of facioscapulohumeral muscular dystrophy

面肩肱型肌营养不良症基因诊断

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Objective To perform gene diagnosis and summarize clinical features of facioscapulohumeral muscular dystrophy ( FSHD) in order to improve its diagnosis.

目的对面肩肱型肌营养不良症（FSHD）患者进行基因诊断并总结其临床特征，以提高FSHD的诊断水平。

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