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(Hypertension. 2002;40:928.)
© 2002 American Heart Association, Inc.

Scientific Contributions

Loss of Chromosome 16 From Renal Epithelial Cells in Humans

Jeffrey P. Gardner; Xiao-Yan Yang; Joan Skurnick; Patricia D. Wilson; Hana Aviv; Smita Patel; Amy L. Davidow; Michael Gutkin; Abraham Aviv

From the Hypertension Research Center (J.P.G., X.-Y.Y., S.P., M.G., A.A.), the Department of Preventive Medicine and Community Health (J.S., A.L.D.), and the Center for Human Molecular Genetics (H.A.), University of Medicine and Dentistry of New Jersey, New Jersey Medical School, Newark, NJ; and the Division of Nephrology, Department of Medicine, Mt Sinai Medical Center (P.D.W.), New York, NY.

Correspondence to Dr Abraham Aviv, Room F-464, MSB, Hypertension Research Center, University of Medicine and Dentistry of New Jersey, 185 South Orange Ave, Newark, NJ 07103–2714. E-mail avivab{at}umdnj.edu

This work explores the notion that low-frequency, acquired aneuploidy may play a role in complex genetic traits such as essential hypertension. To this end, renal epithelial cells in urinary sediments and in renal cysts were examined by fluorescent in situ hybridization with DNA probes specific for the heterochromatic and centromere regions of chromosomes 16 and 1. Chromosome 16 was probed because it harbors variant genes causing monogenic hypertension. These genes have also been investigated for their role in essential hypertension. Chromosome 1 was also probed as an internal control. Higher proportions of renal epithelial cells in the urinary sediments showed monosomy of chromosome 16 than monosomy of chromosome 1 (P<0.001). We also observed in epithelial cells of renal cysts a preponderance of monosomy for chromosome 16 over monosomy for chromosome 1 (P<0.024). Low-frequency loss of heterozygosity that results from acquired monosomy of chromosome 16 and perhaps other chromosomes may contribute to expression of complex genetic traits such as essential hypertension, in which the diverse phenotypic manifestations are poorly understood.

Key Words: hypertension, essential • epithelium • kidney