Fine Mapping of a Genetic Locus for Peutz-Jeghers Syndrome on Chromosome 19p
作者： Christopher I Amos , Deeksha Bali , Tracy J Thiel , Joshua P Anderson , Ian Gourley
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摘要: Peutz-Jeghers syndrome (PJS) was recently mapped in a single report to the telomeric region of chromosome 19p (A. Hemminki et al., Nat. Genet., 15: 87-90, 1997). Our studies confirm this location and provide further localization PJS locus. In five families examined, there were no recombinants with marker D19S886. The multipoint log odds score at D19S886 is 7.52, we found evidence for genetic heterogeneity. We also that all carriers expressed phenotype noncarriers displayed sequellae, indicating complete penetrance sporadic cases.
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A A Schäffer, R W Cottingham, R M Idury, Faster sequential genetic linkage computations. American Journal of Human Genetics. ,vol. 53, pp. 252- 263 ,(1993)
Jeffrey R. O'Connell, Daniel E. Weeks, The VITESSE algorithm for rapid exact multilocus linkage analysis via genotype set–recoding and fuzzy inheritance Nature Genetics. ,vol. 11, pp. 402- 408 ,(1995) , 10.1038/NG1295-402
Eric Lander, Leonid Kruglyak, Genetic dissection of complex traits: guidelines for interpreting and reporting linkage results Nature Genetics. ,vol. 11, pp. 241- 247 ,(1995) , 10.1038/NG1195-241
Akseli Hemminki, Ian Tomlinson, David Markie, Heikki Järvinen, Pertti Sistonen, Anna-Maria Björkqvist, Sakari Knuutila, Reijo Salovaara, Walter Bodmer, Darryl Shibata, Albert de la Chapelle, Lauri A. Aaltonen, Localization of a susceptibility locus for Peutz-Jeghers syndrome to 19p using comparative genomic hybridization and targeted linkage analysis Nature Genetics. ,vol. 15, pp. 87- 90 ,(1997) , 10.1038/NG0197-87
P. W. Reed, J. L. Davies, J. B. Copeman, S. T. Bennett, S. M. Palmer, L. E. Pritchard, S. C. L. Gough, Y. Kawaguchi, H. J. Cordell, K. M. Balfour, S. C. Jenkins, E. E. Powell, A. Vignal, J. A. Todd, Chromosome-specific microsatellite sets for fluorescence-based, semi-automated genome mapping. Nature Genetics. ,vol. 7, pp. 390- 395 ,(1994) , 10.1038/NG0794-390
Karl H. Perzin, Mary F. Bridge, Adenomatous and carcinomatous changes in hamartomatous polyps of the small intestine (Peutz-Jeghers syndrome):Report of a case and review of the literature Cancer. ,vol. 49, pp. 971- 983 ,(1982) , 10.1002/1097-0142(19820301)49:5<971::AID-CNCR2820490522>3.0.CO;2-1
I P Tomlinson, R S Houlston, Peutz-Jeghers syndrome. Journal of Medical Genetics. ,vol. 34, pp. 1007- 1011 ,(1997) , 10.1136/JMG.34.12.1007
Tom Maniatis, Joseph Sambrook, E. F. Fritsch, Molecular Cloning: A Laboratory Manual ,(2001)
T. Raymond Foley, Thomas J. McGarrity, Arthur B. Abt, Peutz-Jeghers Syndrome: A Clinicopathologic Survey of the "Harrisburg Family" With a 49-Year Follow-up Gastroenterology. ,vol. 95, pp. 1535- 1540 ,(1988) , 10.1016/S0016-5085(88)80074-X
Marian C. Finan, Mark K. Ray, Gastrointestinal polyposis syndromes Dermatologic Clinics. ,vol. 7, pp. 419- 434 ,(1989) , 10.1016/S0733-8635(18)30575-8