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Molecular tools for presymptomatic testing in multiple endocrine neoplasia type 1
Author(s) -
LARSSON C.,
CALENDER A.,
GRIMMOND S.,
GIRAUD S.,
HAYWARD N.K.,
TEH B.,
FARNEBO F.
Publication year - 1995
Publication title -
journal of internal medicine
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 2.625
H-Index - 160
eISSN - 1365-2796
pISSN - 0954-6820
DOI - 10.1111/j.1365-2796.1995.tb00929.x
Subject(s) - men1 , multiple endocrine neoplasia , medicine , linkage (software) , genetic linkage , computational biology , genetic testing , set (abstract data type) , genetics , oncology , biology , gene , computer science , programming language
. The aim of this workshop session was to define a set of molecular tools for pre‐clinical diagnosis in affected families, and to assess presence or absence of linkage to 11q13 in families with classical MEN1 as well as with MEN 1‐related clinical features. A consensus linkage map of first‐ and second‐choice markers based on PCR as well as Southern blotting was established at the workshop. Based on the results from linkage analysis in 87 families with classical MEN1, presymptomatic testing using the suggested panel of markers, can now be performed with great accuracy.