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Neonatal alloimmune thrombocytopenia (NAIT), or fetal maternal alloimmune thrombocytopenia (FMAIT), is a rare disease caused by maternal alloimmunization to inherited paternal human platelet antigens (HPA) expressed on fetal platelets (see Note 1). Maternal anti-HPA IgG ant ...

The congenital immunodeficiencies are a group of inherited conditions in which there are defects of immune function. The last decade has seen the identification of most of the genes defective in these disorders (1). Diagnostic genetic assays have been developed for many of these conditions ...

An extensive published literature now exists on the role of heritable thrombophilia in adult thromboembolic disease (1). Activated protein C resistance (APCR) secondary to the factor V (FV) Leiden mutation is a relatively common genetic defect, occurring in 2–15% of Caucasian populati ...

Minimal residual disease (MRD) refers to the presence of clonal cells in the bone marrow at a level below morphological detection. It is possible to detect low levels of bone marrow disease in acute lymphoblastic leukemia (ALL) by flow cytometry, ploidy studies, fluorescent in situ hybridiza ...

Relapse remains a major cause of treatment failure in acute myeloid leukemia (AML); however, patients destined to relapse cannot be reliably distinguished on the basis of pretreatment characteristics. Hence, there has been considerable interest in strategies for detection of mini ...

Measurement of minimal residual leukemia at early time points during therapy has now been shown to predict reliably outcome in childhood acute lymphoblastic leukemia (ALL) (1-3). Consequently, ongoing European treatment protocols are using this technology to stratify therapy. Cu ...

Analysis of gene expression is used to appreciate gene function, as the pool of messenger RNA (mRNA) determines, at least partly, the physiological status of the cell. Until now it has been possible to measure single gene function only by Northern assays or reverse transcriptase-polymerase ch ...

During the last two decades, survival in cases of childhood acute lymphoblastic leukemia (ALL) has improved from 50% to approx 80%. This has been achieved primarily by intensifying therapy, particularly for high-risk groups (1). During this period, biological features of the disease have be ...

In the last decade molecular cytogenetics, or fluorescence in situ hybridization (FISH), has become an important complementary procedure to routine chromosomal analysis. The most significant consequence from cytogenetic studies in childhood leukemia has been the associati ...

Hemopoietic stem cell transplantation from a fully matched sibling donor has been successfully carried out since the mid-1960s. Unfortunately only a third of potential transplant recipients have a fully matched sibling. In addition in the early 1990s it became apparent that the serolo ...

In recent years, considerable progress has been made in the analysis of hematopoietic chimerism after allogeneic stem cell transplantation (SCT). The introduction of polymerase chain reaction (PCR)-based methods for the characterization of “variable number of tandem repeats” ( ...

The ever increasing numbers of reported HLA alleles pose a problem to the modern tissue typing laboratory (Table 1) (1-4). PCR-sequencing based typing (PCR-SBT) analyzes the complete nucleotide sequence of the polymorphic exons of HLA class I and II and, as such, provides the highest resolution ...

Transforming growth factor (TGF)-β is a prototypic multifunctional cytokine whose broad modulatory mechanisms affect numerous biological functions both at the cell and organism levels. These include, but are not limited to, control of immune functions, embryogenesis, carcino ...

The kidney has unique attributes that are related to its complex structure and that affect the nature of fibrogenesis in this organ. It is divided into functional units, called nephrons, that have both a filtering and a reabsorbing component. Sclerosis may initiate in the sites of either of these co ...

At present automated genotyping in diagnosis involves the detection, digitrzation, and analysis of labeled DNA using computer software. This chapter describes the use of the Applied Biosystems (Foster City, CA) 373 DNA Sequencer and Genescan 672 software for sizing fluorescently la ...

The provision of genetic counseling should be an Integral component to molecular diagnostic testing for two important reasons: The potential impact (medical and psychosocial) for the individual being tested and for their family is great (1) and ensuring informed choice is crucial as upt ...

The chromosomal region 15qll→ql3 exhibits one of the best characterized examples of genomic imprinting in humans in that biparental inheritance of this region is essential for normal development. Prader-Willi syndrome (PWS) and Angelman syndrome (AS) are clinically distinct neu ...

The detection of genetic defects in human embryos following in vitro fertilization (IVF) or preimplantation genetic diagnosis (PGD) allows the selection and transfer of unaffected embryos in couples known to be at risk of transmitting an inherited disorder. This avoids the need to termi ...

It has been a long-sought goal of human genetics to develop safe and reliable prenatal diagnostic procedures that constitute no risk to the fetus. At present, the safety of available methods is limited by the need to obtam fetal tissues through invasive means, such as chorlomc villus sampling (CVS) ...

Analysis of chromosomes in human embryonic nuclei would ideally be achieved by karyotyping. Several studies have used this technique to examine human embryonic chromosomes (1–4), but information is limited, since it is difficult to obtain bandable metaphase spreads. For preimplant ...