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© 1993 Oxford University Press

OTHER

A disease-associated germline deletion maps the type 2 neurofibromatosis (NF2) gene between the Ewing sarcoma region and the leukaemia inhibitory factor locus

Carolyn J. Watson1,2, Lorraine Gaunt1, Gareth Evans1, Ketan Patel3, Rodney Harris1 and Tom Strachan1,2,*

1University Department of Medical Genetics, St Mary's Hospital Manchester M13 OJH 2Division of Human Genetics, University of Newcastle upon Tyne Molecular Genetics Unit Ridley Building, Claremont Place, Newcastle upon Tyne NE1 7RU 3National Institute of Medical Research Mill Hill, The Ridgeway, London NW7 1AA, UK

* To whom correspondence should be addressed at the University of Newcastle upon Tyne

Received February 10, 1993; Revised March 22, 1993; Accepted March 22, 1993

RFLP typing of members of a neurofibromatosis type 2 (NF2) family suggested that affected individuals were hemizygous at the neurofilament heavy chain (NEFH) locus, possibly as a result of a disease-associated deletion. Conventional karyotyping revealed no evidence for a deletion and all on a majority of the affected family members were heterozygous for closely linked markers which mapped proximal to the NEFH locus (D22S1 and D22S56) and for the distal markers D22S32. FISH analysis confirmed a disease-associated germinal deletion on 22q which encompassed the NEFH locus, which is known to be very closely linked to NF2, but did not extend as far as the proximal Ewing sarcoma region or the distal leukaemia factor (LIF) locus. PFGE analysis with a LIF cosmid subclone identified patient-specific NotI and MluI fragments and suggested that the deletion is about 700 kb in length. Although this large deletion could be expected to eliminate a considerable fraction, and possibly all of the NF2 gene, the resulting phenotype is the mild, so-called Gardner subtype of NF2. The deletion should provide a useful mapping resource for characterising the chromosomal region containing the NF2 locus.


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