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Molecular Genetic Evidence of an Association between Nasal Polyposis and the Peutz–Jeghers Syndrome

Josbert J. Keller, MD; Anne Marie Westerman, MD; Felix W.M. de Rooij, PhD; J.H. Paul Wilson, MD; Herman van Dekken, MD, PhD; Francis M. Giardiello, MD; Marian A.J. Weterman, PhD; and G. Johan A. Offerhaus, MD, MPH, PhD
[+] Article and Author Information

Academic Medical Center; University of Amsterdam; 1105 AZ Amsterdam, the Netherlands (Keller) Dijkzigt Hospital; University of Rotterdam; 3015 GD Rotterdam, the Netherlands (Westerman, de Rooij, Wilson, van Dekken) Johns Hopkins University; Baltimore, MD 21205 (Giardiello) Academic Medical Center; University of Amsterdam; 1105 AZ Amsterdam, the Netherlands (Weterman, Offerhaus)


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Ann Intern Med. 2002;136(11):855-856. doi:10.7326/0003-4819-136-11-200206040-00020
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Figures

Grahic Jump Location
Figure.
Loss of heterozygosity at 19p13.3 in nasal polyp DNA, and haplotype analysis confirming loss of the wild-type allele.A.B.

Loss of heterozygosity with marker D19S886 in nasal polyp DNA compared with normal DNA from patient III.1, analyzed with the ABI377 sequencer and Genescan software (PE Biosystems, Foster City, California). The peaks represent the two alleles (179 base pairs and 187 base pairs). In polyp DNA, the allele with 179 base pairs is lost; the small peak represents contamination with normal DNA from inflammatory or stromal cells. Marker D19S886 was used to analyze normal DNA from patient III.1, his spouse, and affected and nonaffected offspring. The allele with 179 base pairs from patient III.1 does not segregate with the Peutz–Jeghers syndrome; that is, the allele with 187 base pairs (*) contains the germline mutation responsible for the Peutz–Jeghers syndrome. Consequently, loss of heterozygosity in the nasal polyp of patient III.1 results in retention of only the mutant allele.

Grahic Jump Location

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