A disease-associated germline deletion maps the type 2 neurofibromatosis (NF2) gene between the Ewing sarcoma region and the leukaemia inhibitory factor locus
| Autor: | Ketan Patel, Tom Strachan, Lorraine Gaunt, Carolyn J. Watson, Gareth J.O. Evans, Rodney Harris |
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| Předmět: |
Genetic Markers
Genetic Linkage Chromosomes Human Pair 22 Locus (genetics) Sarcoma Ewing Biology Leukemia Inhibitory Factor Germline Gene mapping Neurofilament Proteins Genes Neurofibromatosis 2 otorhinolaryngologic diseases Genetics medicine Humans Neurofibromatosis Neurofibromatosis type 2 Child Molecular Biology Alleles In Situ Hybridization Fluorescence Genetics (clinical) Sequence Deletion Lymphokines Interleukin-6 Chromosome Mapping Karyotype General Medicine medicine.disease Molecular biology Growth Inhibitors Pedigree Chromosomal region Cosmid Polymorphism Restriction Fragment Length |
| Zdroj: | University of Manchester-PURE |
| Popis: | 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 or 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 marker 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. |
| Databáze: | OpenAIRE |
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