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
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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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Figure. 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. Loss of heterozygosity at 19p13.3 in nasal polyp DNA, and haplotype analysis confirming loss of the wild-type allele.A.B.
- Copyright ©2004 by the American College of Physicians
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Ann Intern Med
June 4, 2002
vol. 136
no. 11
855-856
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