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Allelic Imbalance Demonstrated by Microsatellite Analysis of Lung Samples From Patients With Familial Pulmonary Fibrosis*

Alan Q. Thomas, MD; Jennifer Carneal, BS; Cheryl Markin, BS; Kirk B. Lane, PhD; John A. Phillips, III, MD; James E. Loyd, MD
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*From the Division of Allergy, Pulmonary, and Critical Care Medicine (Drs. Thomas, Lane, Loyd, and Ms. Markin), and Division of Medical Genetics (Ms. Carneal and Dr. Phillips), Vanderbilt University School of Medicine, Nashville, TN.

Correspondence to: Alan Q. Thomas, MD, Research Fellow, Center for Lung Research, Department of Allergy, Pulmonary, and Critical Care Medicine, Vanderbilt University School of Medicine, 1211 22nd Ave, Nashville, TN 37232



Chest. 2002;121(3_suppl):25S. doi:10.1378/chest.121.3_suppl.25S
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Idiopathic pulmonary fibrosis (IPF) is a fatal, proliferative lung disease of unknown etiology. The relative risk of lung cancer in patients with IPF is seven times that of smoking control subjects, suggesting chronic DNA damage and/or repair dysfunction. Vassilakis et al1 demonstrated loss of heterozygosity (LOH) and microsatellite instability (MSI) in the DNA from sputum of patients with IPF. We hypothesized that LOH and MSI might be involved in the pathogenesis of familial IPF (FIPF) and could possibly identify candidate loci. Thus, we analyzed the incidence of LOH and MSI at six highly polymorphic microsatellite marker loci from 11 patients with FIPF and 4 patients with familial primary pulmonary hypertension. Microsatellite markers were analyzed on an ABI 310. Applied Biosystems, Foster City, CA). The allele ratio of each patient was calculated using the following previously described formula: (T1/T2)/(N1/N2), where N1 and N2 are areas under the allele peaks in blood, and T1 and T2 are areas under the allele peaks in lung tissue. Four of 11 patients with FIPF (36%) exhibited LOH by at least one marker, including D17S579, D9S59, and D8S133, all adjacent to putative tumor suppressor genes. No patients with familial primary pulmonary hypertension showed LOH, and MSI was not detected in either group. These findings suggest that allelic imbalance occurs in patients with FIPF patients, which may play a role in the pathogenesis of the disease and identify candidate loci for relevant genes.

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