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Gladys M. Glenn, MD, PhD; W. Marston Linehan, MD; Shigeto Hosoe, MD; Farida Latif, PhD; Masahiro Yao, MD; Peter Choyke, MD; Michael B. Gorin, MD, PhD; Emily Chew, MD; Edward Oldfield, MD; Cia Manolatos, RN; Mary Lou Orcutt, MS; McClellan M. Walther, MD; Gary H. Weiss, MD, PhD; Kalman Tory, MD; Olafur Jensson, MD; Michael I. Lerman, MD, PhD; Berton Zbar, MD

JAMA. 1992;267(9):1226-1231.

Abstract
Objective.
—Von Hippel-Lindau (VHL) disease is a rare, inherited multisystem neoplastic disorder. There is no biochemical test available to distinguish VHL disease gene carriers from their healthy siblings. We evaluated DNA polymorphism analysis as a method for identifying disease gene carriers.

Design.
—Prospective comparison of the results of DNA analysis with a comprehensive clinical screening examination.

Setting.
—The Clinical Center of the National Institutes of Health.

Patients.
—Blood was collected from 182 members of 16 families with VHL disease. Forty-eight asymptomatic individuals, at risk of developing this hereditary illness (with an affected parent or sibling), were examined for occult disease at the Clinical Center of the National Institutes of Health and tested by DNA polymorphism analysis.

Results.
—DNA polymorphism analysis predicted nine disease gene carriers and 33 individuals with the wild-type (normal) allele among the 48 individuals at risk of developing VHL disease; the test was not informative in six individuals. All nine individuals predicted to carry the VHL gene had evidence of occult disease on clinical examination. There was no clinical evidence of VHL disease in 32 of 33 individuals predicted to carry the wild-type allele.

Conclusions.
—DNA polymorphism analysis can identify individuals likely to carry the VHL disease gene among asymptomatic members of disease families. This technique serves to focus attention on those individuals who require periodic medical examination and may help to alleviate the morbidity and mortality associated with this disease.

(JAMA. 1992;267:1226-1231)

Author Affiliations
From the Cancer Diagnosis Branch (Dr Glenn), Laboratory of Immunobiology (Drs Hosoe, Latif, Lerman, Yao, and Zbar, and Ms Orcutt), Surgery Branch (Drs Linehan, Walther, and Weiss), National Cancer Institute; Diagnostic Radiology Department (Dr Choyke) and the Nursing Department (Ms Manolatos), Clinical Center; the Clinical Branch, National Eye Institute (Dr Chew); the Surgical Neurology Branch, National Institute of Neurologic Disorders and Stroke (Dr Oldfield); National Institutes of Health, Bethesda, Md; the Eye and Ear Institute of Pittsburgh, Pittsburgh, Pa (Dr Gorin); Program Resources Inc, Frederick, Md (Dr Tory); and the Blood Bank, National University Hospital, Reykjavik, Iceland (Dr Jensson).

Footnotes
Reprint requests to the Laboratory of Immunobiology, Bldg 560, Room 12-71, NCI-FCRDC, Frederick, MD 21701 (Dr Zbar).

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