Detection of Epstein-Barr virus antigens and DNA in major and minor salivary glands using immunocytochemistry and polymerase chain reaction: possible relationship with Sjogren's syndrome

Article Abstract:

Sjogren's syndrome (SS) is a disorder in which the mucous membranes become dry, with dryness of the mouth and eyes. Although the cause of SS is unknown, it may be an autoimmune disease (in which the body manufactures antibodies to its own tissues) precipitated by environmental factors, such as viruses. In particular, Epstein-Barr virus (EBV), associated with the salivary glands, has been implicated. Several studies have examined salivary gland cells from SS patients for the presence of EBV, with conflicting results. In one study, 78 percent of the salivary glands from SS patients were found to contain EBV DNA (genetic material from EBV), while only 13 percent of the salivary glands from patients without SS contained EBV DNA. In two other studies, EBV DNA was present in the salivary glands of patients with and without SS. In an attempt to clarify this issue, salivary gland cells from 10 patients with SS, eight patients with rheumatoid arthritis (often associated with SS), and seven normal individuals were examined for the presence of EBV. The salivary gland cells were tested for EBV using two techniques: labeled antibodies that bind to antigens (proteins) associated with EBV (immunocytochemistry); and the polymerase chain reaction (PCR), a method of amplifying the amount of DNA present so it can be analyzed. None of the salivary gland samples tested positive for EBV using immunocytochemistry. When PCR was performed, no differences were found in the presence of EBV DNA between SS patients (present in 90 percent of the salivary gland samples) and normal individuals or rheumatoid arthritis patients (present in 71 percent of samples from both groups). The findings do not support a causal role for EBV in SS. (Consumer Summary produced by Reliance Medical Information, Inc.)

Medical examination, Physiological aspects, Salivary glands, Sjogren's syndrome, Epstein-Barr virus

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Application of intragenic DNA probes in prenatal screening for retinoblastoma gene carriers in the United Kingdom

Article Abstract:

Although retinoblastoma, a tumor of the retina, is rare, it is the most common eye malignancy in children. In about one-third of retinoblastoma cases, the predisposition for this cancer is dominantly inherited from the parents. The genetic defect involves mutations in two genes, each of which codes for a protein. The tumor will not develop if only one gene is affected. Five probes have been developed which recognize the DNA in the affected genes. These five probes have been used to study 55 families known to have inherited retinoblastoma. While the probes were not effective in six families, abnormal genes were identified in the other 49 families. Non-penetrance, in which an abnormal gene exists but no cancer develops, occurred in four individuals. Ninety percent total penetrance for retinoblastoma was noted in these families. Prenatal or perinatal screening was performed in four cases. The defect was identified in one fetus, which will require frequent screening for early detection of retinoblastoma. The effectiveness and usefulness of these new tests for early detection and diagnosis of retinoblastoma are discussed. (Consumer Summary produced by Reliance Medical Information, Inc.)

Innovations, Testing, Medical genetics

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Carrier detection and prenatal screening of the retinoblastoma gene

Article Abstract:

Retinoblastoma (Rb), both sporadic and hereditary forms, is the most common intra-ocular tumor in children, with an incidence rate of 1 in 20,000 live births. Early diagnosis is essential if life and vision are to be saved; there are few survivors of metastatic Rb. Early detection can be accomplished by regularly scheduled screening of family members of an affected individual. This involves hospitalization and thorough eye examination. The Rb gene has now been sequenced and characterized, and the probable location of the gene is on chromosome 13 band q14. This genetic description can be used to screen tumor-producing capabilities in infants and fetuses. The continued development of techniques of molecular pathology may facilitate the ability to predict the course of this disease, along with degree of invasiveness, the extent of involvement, and susceptibility of the patient to second tumors. (Consumer Summary produced by Reliance Medical Information, Inc.)

Prevention, Prenatal diagnosis, editorial

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