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The microsomal enzyme cytochrome P450 2D6 (CYP2D6), also known as debrisoquine 4-hydroxylase, is involved in the oxidative metabolism of many widely used drugs, including neuroleptics, tricyclic antidepressants, antiarrhythmics, and β-adrenergic blocking agents (1). Poly ...

Apolipoprotein E (apo E) is a 299-amino acid plasma protein involved in cholesterol transport and is found in chylomicrons, very low density lipopro-tein, intermediate-density lipoprotein, and high-density lipoprotein (1,1).

Hereditary hemochromatosis (HH) is an autosomal recessive disorder of iron metabolism with a frequency of homozygosity in the Caucasian population of 1 in 200-400. The pathophysiologic hallmark of HH is chronic, increased absorption of dietary iron beyond that required for normal iron ...

Hemolytic disease of the newborn (HDN) can occur when there are fetomaternal incompatibilities within any number of different erythrocyte antigen systems, including the RhD, Cc, Ee, Kidd and Duffy, and Kell antigen systems. In these disorders, maternal antibodies are developed by alloi ...

Deep vein thrombosis (DVT) can be the result of coagulation pathway defects at the molecular level or damage to the vascular endothelium. Some of the acquired causes of DVT include malignancy, trauma, prolonged immobilization, and pregnancy (1). Thrombophilia can be owing in part to both acqu ...

The measurement of plasma human immunodeficiency virus type 1 (HIV-1) RNA levels has become an important tool for identifying individuals likely to benefit from antiretroviral therapy (1–7) as well as monitoring patients on therapy (8–14), and is now regarded as standard medical practice ...

The first step in molecular analysis of patient tissues is preparation of purified, high molecular weight DNA. A number of methods and commercial kits are available for DNA isolation. Traditional organic extraction protocols (1,2) are based on the fact that DNA is soluble in water whereas lipi ...

The ability to detect mycobacterial DNA by polymerase chain reaction (PCR)-based methodology in formalin-fixed, paraffin-embedded tissue sections is useful in several clinical scenarios. The major use of this type of assay is in those instances in which infectious disease is not clini ...

For more than two decades prior to the discovery of the hepatitis C virus (HCV), posttransfusion non-A, non-B (NANB) hepatitis was thought to have a viral etiology. In 1989, the virus was finally identified through a unique application of molecular cloning techniques by investigators at the Cent ...

Herpes simplex virus (HSV) is an ubiquitous agent responsible for a wide variety of human infections. In addition to epithelial infections such as gingivostomatitis, pharyngitis, genital herpes, whitlow, conjunctivitis, and keratitis, HSV is an important cause of central nervous sy ...

Eight viruses in the herpes family have been identified that infect humans: herpes simplex viruses 1 and 2, varicella-zoster virus, Epstein-Barr virus, cytomegalovirus (CMV), human herpesviruses 6 and 7 and the Kaposi sarcomaassociated herpesvirus (1). In immunocompetent individ ...

Kaposi’s sarcoma-associated herpesvirus (KSHV), also called human herpesvirus-8 (HHV-8), is the most recently identified human herpesvirus (1). It has been found to be invariably present in Kaposi’s sarcoma (KS) lesions, whether these are associated with AIDS (epidemic KS), therapeu ...

Epstein-Barr virus (EBV) viral load testing is rapidly gaining acceptance in the diagnosis and monitoring of patients with EBV-related neoplasia, including transplant recipients, autoimmune deficiency syndrome (AIDS) patients with brain lymphoma, and patients with nasoph ...

The Southern blot technique can be used to determine the clonality of Epstein-Barr virus (EBV) infected cells (1,2). This clonality assay capitalizes on measurable polymorphisms in EBV genomic structure, namely, the variable number of tandem repeats lying at either end of the linear viral g ...

In situ hybridization (ISH) to Epstein-Barr virus (EBV)-encoded RNA (EBER) is considered the “gold standard” for detecting and localizing latent EBV in biopsy samples. Transcripts from the EBER1 and EBER2 genes are an appropriate target because they are the most abundant viral RNA in latent ...

The clinical utility of human papillomavirus (HPV) testing continues to be the focus of much debate. The clear epidemiologic link of HPV infection with the development of cervical intraepithelial neoplasia and invasive cervical cancers

Most germline mutations of the adenomatous polyposis coli (APC) tumor suppressor gene result in a classic inherited cancer syndrome called familial adenomatous polyposis (FAP). FAP is characterized by thousands of colonic polyps, well-defined extracolonic manifestations t ...

In routine histopathology, most tissues are fixed in formalin and embedded in paraffin for long-term preservation. DNA can be extracted from these tissues for subsequent molecular analysis by amplification methods. We describe herein a protocol for DNA preparation from paraffin-e ...

Multiple endocrine neoplasia type 2 (MEN2) comprises three autosomal dominant disorders: MEN2A, familial medullary thyroid carcinoma (FMTC), and MEN2B. Clinical features common to both MEN2A and MEN2B include C-cell hyperplasia, medullary thyroid cancer (MTC), and pheochromo ...

Multiple endocrine neoplasia type 1 (MEN1) is an autosomal dominant syndrome characterized by the predisposition to develop both peptic ulcer disease and a wide variety of endocrine tumors usually in adolescence and adulthood. Specifically, hyperplasia and/or tumors (most often a ...