基因诊断

基因诊断中DNA序列的快速检测法

A method of quickly sequencing DNA in gene diagnosis

一脆性X综合征家系的基因诊断及其动态突变

Dynamic mutation inheritance and gene diagnosis in a fragile X syndrome family

血友病B的产前基因诊断

Prenatal diagnosis of hemophilia B by factor IX gene analysis

DNA生物传感器在基因诊断中的实验研究

The Research of DNA Biosensor for Gene Diagnoses

树状DNA放大技术在临床基因诊断中的应用

Application of Dendrimer DNA Hybridization in Clinical Diagnosis

脆性X综合征的基因诊断与产前诊断

Genetic Diagnosis and Prenatal Genetic Diagnosis of Fragile X Syndrome

10例X连锁无丙种球蛋白血症的临床分析和基因诊断

Clinical and genetic analysis of 10 cases with X-linked agammaglobulinemia

应用连锁分析方法对X连锁型视网膜色素变性进行基因诊断的研究

Gene diagnosis of X linked retinitis pigmentosa by linkage analysis

人巨细胞病毒感染套式PCR基因诊断方法的研究

Genetic Diagnosis or Human Cytomegalovirus Infection by Nested Polymerase Chain Reaction

聚合酶链式反应扩增DNA直接测序技术基因诊断β&地中海贫血

Detection of β - thalassemic mutations by direct genomic sequencing of polymerase chain reaction amplified DNA

地高辛标记DNA探针在α-地中海贫血基因诊断中的应用

Application of digoxigenin labeled DNA probe for the detection of Genie deletion in α - thalassemias

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

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

应用巢式PCR能对20个左右的胎儿有核红细胞DNA进行扩增，使遗传病的无创性产前基因诊断成为可能。

Nested PCR can amplify DNA for gene diagnosis from no less than 20 NRBCs .

淋球菌PCR基因诊断试剂盒的研制及初步应用

Trial use of Neisseria gonorrhoeae PCR diagnosis kit

荧光多重PCR对α地中海贫血的基因诊断

Diagnosis of several common α - thalassemia genotypes by multiplex fluorescence polymerase chain reaction

PCR技术在甲型血友病基因诊断中的应用

Gene Diagnosis of Hemophilia A by PCR

摘要：目的利用直接测序法对一中国汉族人X性连锁少汗性外胚叶发育不良家系进行基因诊断。

ABSTRACT : Objective To identify the mutations of ED1 gene in a family with X-linked hypohidrotic ectodermal dysplasia .

目的探讨用连锁分析方法对X连锁型视网膜色素变性（RP）进行基因诊断的可行性。

Objective To establish a gene diagnosis method for X linked retinitis pigmentosa ( XLRP ) .

结论：多重PCR用于α地贫和PCR/RDB用于β地贫的临床基因诊断方法简便、效率高。

Conclusion : Multiple PCR and PCR / RDB were simple and effective methods in clinical gene diagnosis of thalassemia .

应用PCR技术对DMD做基因诊断的研究

Gene Diagnosis of Duchenne Muscular Dystrophy with PCR Amplification

结论应用孕妇血浆中胎儿DNA作产前诊断敏感性和特异性较高，是一种无创性产前基因诊断方法，具有广泛的临床应用前景。

Conclusions Detecting fetal DNA in maternal plasma is a non-invasive prenatal gene diagnosis with high sensitivity and specificity and is very promising in clinical practice .

作为一种胎儿新的检测材料，游离胎儿DNA的发现为非侵入性产前基因诊断提供了可能。

The discovery of cell-free fetal DNA in maternal plasma as a new fetal genetic material has provided a promising possibilities for the non-invasive prenatal diagnosis .

人类免疫缺陷病毒1型感染基因诊断方法的建立人类免疫缺陷病毒1型RNA定量参考品的研制

Development of HIV-1 laboratory diagnostic assay based on the nucleic acid detection Establishment of the reference panel for HIV RNA

异源双链&SSCP法是简便实用的RB基因诊断方法。

Heteroduplex SSCP analysis is a simple and practical methods for gene diagnosis .

扩增DNA的分析毋需放射性DNA探针和Southern杂交，产前基因诊断可在5小时内完成。

The analysis of the amplified DNA does not require radioactive DNA probe and Southern hybridization . Prenatal gene diagnosis can be accomplished within 5 hours .

目的最大限度地提高血友病A（HA）患者及家系成员的基因诊断、携带者检出及产前诊断的可诊断率。

Objective To improve the gene diagnosis , carrier detecting and prenatal diagnosis for hemophilia A families to a maximum .

聚合酶链反应作为一种强有效的DNA体外扩增技术，已被广泛地应用于一些遗传性疾病的临床基因诊断。

Polymerase Chain Reaction ( PCR ) as an efficient DNA amplification technique in vitro hasbeen widely al (?) lied to clinical gene diagnosis of some hereditary diseases .

利用21号染色体上STR位点进行唐氏综合征基因诊断的研究

Genetic diagnosis of Down 's syndrome using the STR of 21 chromosome

结论：49（CA）n多态是DMD基因诊断中非常有意义的遗传标记之一。

Conclusion : The polymorphism of ( CA ) n located in intron 49 is a very important marker in prenatal diagnosis .

TGGE结合DNA测序法的建立可用于本症的基因诊断。

TGGE combined with DNA sequencing can be used in the genetic diagnosis of FH .