遗传学实验技术

Comparative genomic hybridization (CGH) is a molecular cytogenetic technique that can characterize excess and missing cytogenetic material often unrecognizable by G-banding, in a one step global screening procedure. The advantage of CGH over conventional fluorescence in situ ...

A marker chromosome is defined as a structurally abnormal supernumerary chromosome that can not be identified by routine cytogenetics. Examples of marker chromosomes include rings, derivatives, dicentrics, and minute chromosomes. Current literature suggests that supernu ...

Cytogenetic analysis is currently a standard prenatal diagnostic test. It is routinely offered to pregnant patients who have an increased risk of carrying chromosomally abnormal fetuses. The traditional “gold standard” for prenatal diagnosis of chromosome abnormalities is me ...

Fetal chromosomal aneuploidies can be detected by fluorescent in situ hybridization (FISH) analysis of intact fetal cells circulating in maternal blood. Given the low number of circulating fetal cells (1 in 104 to 106 maternal cells) at any given time during pregnancy and given that no fetal-s ...

Preimplantation genetic diagnosis (PGD) has been introduced as a principally new approach to the prevention of genetic disorders, avoiding prenatal diagnosis and potential termination of pregnancy (1,2). It is based on the genetic testing of oocytes or embryos, with the purpose of estab ...

Cells with uniparental disomy (UPD) may have a normal cytogenetic karyotype but are unbalanced in terms of parental contribution. Diagnosis of UPD thus requires genotyping the ‘patient’ and parental DNA samples, i.e., evaluating the inheritance of molecular polymorphisms. This is most ...

Schmickel first defined the Contiguous Gene syndromes in 1986. These are syndromes that involve the deletion of a contiguous stretch of DNA, including multiple genes, on a chromosome. They are also referred to as microdeletion syndromes or segmental aneusomy. These syndromes are clinic ...

Conventional cytogenetic analysis has contributed for the last 35 yr to establishing the etiology of spontaneous abortions (SAs), representing an important diagnostic aid for reproductive pathologists, geneticists, and physicians. There is however a problem in obtaining a cyt ...

This chapter deals with the application of fluorescence in situ hybridization (FISH) to study interphase nuclei from patients with chronic myeloid leukemia (CML). In our experience, FISH for BCR/ABL fusion detects all forms of the Philadelphia (Ph) chromosome (1,2). FISH is a valuable adju ...

Gene amplification is frequently detected in human tumor cells and is thought to make an important contribution to tumorigenesis (1,2). Systematic scanning of the whole genome of tumor cells using comparative genomic hybridization has revealed that gene copy number changes occur con ...

Fluorescence in situ hybridization (FISH) technologies enable rapid detection of chromosome aberrations in all manner of tissues, including both fresh and archival specimens. These technologies have gained broad acceptance in the clinical cytogenetic and research communi ...

Comparative genomic hybridization (CGH) provides genome-scale overviews of chromosomal copy number changes in tumors (1). Unlike conventional cytogenetic analysis, it needs no cell culturing, making it applicable to practically any kind of clinical specimen from which DNA can be o ...

Chromosome aberrations are regularly detected in most hematologic neoplasms and in various solid tumors and are often associated with distinct morphologic and immunophenotypic features of certain clinico-pathologic entities of tumors (1–4). Detection of these chromosome a ...

Bacterial artificial chromosomes (BACs) are ideal materials to use for the purpose of integrating DNA sequence with cytogenetic markers. They have been the major vectors used in genome sequencing. BACs are also well suited for fluorescent in situ hybridization (FISH) in that they represe ...

Recombinant viral vectors have been used to study a variety of fundamental issues in developmental neurobiology, as well as pathogenesis and treatments for various neurodegenerative diseases. Lentiviral vectors are valuable tools for neurobiology research, because of their a ...

Feline immunodeficiency virus (FIV) is an appealing candidate for viral vector development because recombinant FIV vectors efficiently transduce dividing and nondividing cells and thus provides an alternative to primate lentiviral vectors derived from simian immunodef ...

Lentiviral vectors are promising tools for gene transfer (1–4). Like oncoret-roviral vectors, they offer the unique advantage of stably integrating into the genome of the host cell, thus providing the basis for sustained gene expression. In contrast to the classical oncoretrovirus der ...

Retroviruses use homologous recombination to reverse transcribe a doublestranded copy of DNA from their RNA genome. Safety advancements in retroviral vector design include the development of packaging systems that provide all of the retroviral proteins in trans to a replication- ...

A number of inherited and acquired disorders can potentially be treated by gene-based therapies. To be successful, gene therapy requires efficient delivery and continued expression of the therapeutic gene in the target cell. Toward this goal, a variety of methods have been developed for de ...

Semliki Forest virus (SFV), Sindbis virus, and several pathogenic encephalitis-producing viruses (e.g., Ross river virus, RRV) are members of the family Togaviridae and genus Alphavirus. A typical alphavirus is an enveloped virus with single-stranded, positive-polarity RNA geno ...