Peutz-Jeghers syndrome pathophysiology: Difference between revisions
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{{Peutz-Jeghers syndrome}} | {{Peutz-Jeghers syndrome}} | ||
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==Overview== | |||
==Pathophysiology== | |||
===Genetics=== | |||
In 1998, a gene was found to be associated with the mutation. On [[Chromosome 19 (human)|chromosome 19]], the gene known as ''[[STK11]]'' (''LKB1'')<ref>{{cite web |url=http://us.expasy.org/cgi-bin/niceprot.pl?Q15831 |title=UniProtKB/Swiss-Prot entry Q15831 [STK11_HUMAN] Serine/threonine-protein kinase 11 |accessdate=2007-07-21 |format= |work=}}</ref> is a possible [[tumor suppressor gene]]. It is inherited in an ''Autosomal Dominant'' pattern (see [[Mendelian inheritance]]) which means that anyone who has PJS has a 50% chance of passing it onto their children. | |||
== References == | == References == | ||
Revision as of 15:21, 12 September 2012
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]
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Overview
Pathophysiology
Genetics
In 1998, a gene was found to be associated with the mutation. On chromosome 19, the gene known as STK11 (LKB1)[1] is a possible tumor suppressor gene. It is inherited in an Autosomal Dominant pattern (see Mendelian inheritance) which means that anyone who has PJS has a 50% chance of passing it onto their children.
References
- ↑ "UniProtKB/Swiss-Prot entry Q15831 [STK11_HUMAN] Serine/threonine-protein kinase 11". Retrieved 2007-07-21.
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