遗传病诊断

FISH技术在遗传病诊断及产前诊断中的应用

The Application of Fluorescence in Situ Hybridization Technology ( FISH ) to the Diagnosis of Chromosome Abnormality in Genetic Diseases and Prenatal Diagnosis

目的探索X染色体短串联重复序列（STR）在无创性产前诊断中用于胎儿细胞鉴定、性别判断及遗传病诊断的可行性。

Objective To evaluate the applicability of X-specific short tandem repeats ( X-STRs ) in identification of fetal cells , the fetal sex and the common sex chromosome aneuploidy in noninvasive prenatal diagnosis .

寻求在中国使用我们高通量基因测序专利技术，从事遗传病诊断业务的投资者。

Seeking investors to engage in genetic disease diagnosis business in China by using our patented high-throughput gene sequencing technologies .

染色体的分析与识别是细胞遗传学的一个重要课题，在遗传病诊断方面有着广泛的实际应用。

The analysis and recognition of chromosomes are very important problem in cytogenetics , and it is widely used for diagnosis of genetic disease .

遗传病分子诊断：新的进展和可预见的将来

Molecular Diagnosis of Genetic Diseases : New Progress and Foreseeable Future

胎儿遗传病实验诊断标本采集方法的对比分析

Methodological study on laboratory diagnosis of genetic diseases in fetus

策略上的改善使我们有可能在分子水平上对多基因遗传病进行诊断；

The improving of strategies makes it possible to diagnose multi-gene genetic diseases in molecular level .

目的：探讨利用母血胎儿有核红细胞进行性连锁遗传病产前诊断的可行性；

Objective : to discuss the possibility of prenatal diagnosis of X-linked genetic disease with fetal cells in maternal blood .

得益于人基因组计划的成果，遗传病分子诊断将进入一个全新的时代。

Benefiting from the results of humans genomic project , molecular diagnosis of genetic disease will step into a new era .

血浆游离DNA在遗传病和肿瘤诊断中的应用

Diagnosing Genetic Disease and Carcinoma with Cell-free Plasma DNA

目的探讨利用孕妇血浆中胎儿DNA进行遗传病产前基因诊断的可行性。

Objective To study the feasibility of using free fetal DNA in maternal plasma for non-invasive prenatal diagnosis .

目的建立一种非创伤性的取材和快速胎儿性别诊断方法，并应用于X连锁遗传病的产前诊断。

Objective To find a way of sampling without any wound and quick diagnosis of fetal sex and its application in X-linked recessive inheritance .

结论位点特异PCR是一种不受DNA序列有否限制性内切酶位点的检测突变的方法，适用于LHON等致病突变明确的遗传病的基因诊断。

Conclusion This site-specific PCR method is a kind of general mutation analysis way , without the restriction of existence of endonuclease site . It can be applied for the gene diagnosis of known-mutation hereditary diseases such as LHON .

性连锁性遗传病植入前诊断的临床前运用研究

Preclinical Study of Preimplantation Genetic Diagnosis for Sex Linked Genetic Diseases

逐渐普及神经遗传病的基因诊断，提高诊断水平；

Generalizing the gene diagnosis of neurogenetic disease and increase its accuracy ;

目的建立一个高效、稳定的性连锁性遗传病植入前诊断的方法。

Objective To develop a rapid , high efficient , reliable method for preimplantation genetic diagnosis of sex linked genetic diseases .

它是以孕妇外周血为材料，获取其中微量的胎儿细胞，从而为遗传病的产前诊断提供可靠的胎儿基因组。

This method takes the fetal cells from peripheral blood of pregnant women as materials , using these cells ' DNA as sample to diagnose the genetic disease prenatally .

应用X-Y同源基因对性连锁遗传病进行产前性别诊断

Prenatal diagnosis of sex determination for sex-linked genetic disorder by using X-Y homologous gene

结论：应用X-Y同源引物和SRY基因引物复合扩增，可用于临床上性连锁遗传病的产前性别诊断，方法可靠准确。

It will be suitable for clinical prenatal diagnosis of sex-linked genetic disorder by using PCR with x-y homologous primers .

结论Parkin基因外显子3缺失的检出对常染色体显性遗传帕金森病的早期诊断和基因治疗具有指导意义。

Conclusion : The deletion in exon 3 of Parkin gene is useful for the early diagnosis and gene therapy of the disease .

随着造血干细胞移植及酶替代治疗的逐步开展，MPS成为可治疗的遗传代谢病，早期诊断和早期治疗是改善预后的关键。

With the development of hematopoietic stem cell transplantation and enzyme replacement therapy , MPS have become treatable genetic metabolic diseases . In order to improve prognosis , it is crucial to diagnose and treat MPS in early phrases .

遗传性聋病相关诊断技术及其意义

Diagnostic techniques and related significance of inheritant deafness

先天性遗传代谢病的早期诊断23例先天代谢病误诊分析

Early diagnosis of inborn errors of metabolism in neonatal Period Misdiagnosis Analysis of 23 Cases with Inborn Errors of Metabolism

目前，在应用于这种高度异质性遗传病的各种分子诊断方法中，快速简便的基因芯片技术引人注目。

At present , gene chip with simple and quick is attracting more attention among various molecular diagnosis method applied in heritable disease with high heterology .

本课程的五个重要内容包括染色体病、单基因遗传病、多基因遗传病、遗传学诊断与遗传咨询。

The field of this course mainly studies the chromosomal disorder , single gene disorder , polygenetic disorders , genetic diagnosis and counseling .