Abstract:
:The authors report the results of a genetic analysis performed in 34 neurofibromatosis type 1 (NF1) Italian families using five loci tightly linked to NF1: D17S33, D17S82, D17S83, D17S37, and D17S36. A two-point linkage analysis was performed with the LINKAGE and the CRI-MAP programs. The map of the region was constructed using the MAP90 program. Data from the present study lend further support to evidence that all NF1 mutations are allelic and that the NF1 locus resides in the proximal region of chromosome 17q. Close linkage of NF1 to all the markers was found. Two of them, namely D17S82 and D17S83, showed the highest linkage with a value of 0 recombination frequency and lod scores of 3.77 and 4.02, respectively. The best map found is D17S33-D17S82-NF1-D17S83-D17S37-D17S36+ ++. The authors stress that knowledge of precise order is essential; if D17S82 and D17S83 are proved to flank the NF1 gene, they allow an acceptable presymptomatic diagnosis in informative families.
journal_name
Hum Genetjournal_title
Human geneticsauthors
Clementi M,Murgia A,Anglani F,Tenconi R,Turolla L,Picci L,Zacchello Fdoi
10.1007/BF01213101subject
Has Abstractpub_date
1991-05-01 00:00:00pages
91-4issue
1eissn
0340-6717issn
1432-1203journal_volume
87pub_type
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