title: Molecular tools for presymptomatic testing in multiple endocrine neoplasia type 1.
abstract: 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 MEN1-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.
authors.affiliation: Department of Clinical Genetics, Karolinska Hospital, Stockholm, Sweden.
authors.forename: C
authors.initials: C
authors.lastname: Larsson
authors.forename: A
authors.initials: A
authors.lastname: Calender
authors.forename: S
authors.initials: S
authors.lastname: Grimmond
authors.forename: S
authors.initials: S
authors.lastname: Giraud
authors.forename: N K
authors.initials: NK
authors.lastname: Hayward
authors.forename: B
authors.initials: B
authors.lastname: Teh
authors.forename: F
authors.initials: F
authors.lastname: Farnebo
mesh_terms: D000172:Acromegaly / Q000235:genetics; D000483:Alleles; D001483:Base Sequence; D015139:Blotting, Southern; D008040:Genetic Linkage; D005819:Genetic Markers; D006801:Humans; D006961:Hyperparathyroidism / Q000235:genetics; D008969:Molecular Sequence Data; D018761:Multiple Endocrine Neoplasia Type 1 / Q000175:diagnosis / Q000235:genetics*; D016133:Polymerase Chain Reaction
chemical_list: D005819:Genetic Markers