Identification of neurofibromatosis 1 (NF1) homologous loci by direct sequencing, fluorescence in situ hybridization, and PCR amplification of somatic cell hybrids
- Univ. of Utah, Salt Lake City (United States)
Using fluorescence in situ hybridization (FISH), we have identified seven NF1-related loci, two separate loci on chromosome 2, at bands 2q21 and 2q33-q34, and one locus each on five other chromosomes at bands 14q11.2, 15q11.2, 18p11.2, 21q11.2-q21, and 22q11.2. Application of PCR using NF1 primer pairs and genomic DNA from somatic cell hybrids confirmed the above loci, identified additional loci on chromosomes 12 and 15, and showed that the various loci do not share homology beyond NF1 exon 27b. Sequenced PCR products representing segments corresponding to NF1 exons from these loci demonstrated greater than 95% sequence identity with the NF1 locus. We used sequence differences between bona fide NF1 and NF1-homologous loci to strategically design primer sets to specifically amplify 30 of 36 exons within the 5{prime} end of the NF1 gene. These developments have facilitated mutation analysis at the NF1 locus using genomic DNA as template. 41 refs., 3 figs., 3 tabs.
- OSTI ID:
- 437166
- Journal Information:
- Genomics, Vol. 30, Issue 3; Other Information: PBD: 10 Dec 1995
- Country of Publication:
- United States
- Language:
- English
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Related Subjects
BASIC STUDIES
GENES
GENETIC MAPPING
DNA SEQUENCING
GENE MUTATIONS
PATIENTS
HEREDITARY DISEASES
NERVOUS SYSTEM DISEASES
HUMAN CHROMOSOME 2
HUMAN CHROMOSOME 14
HUMAN CHROMOSOME 15
HUMAN CHROMOSOME 18
HUMAN CHROMOSOME 21
HUMAN CHROMOSOME 22
FLUORESCENCE
DNA HYBRIDIZATION
SOMATIC CELLS
POLYMERASE CHAIN REACTION