Characterization of a single base-pair deletion in neurofibromatosis type 1 |
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| Authors: | Colman, Seven D. Collins, Francis S. Wallace, Margaret R. |
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| Affiliation: | 1Department at Pediatrics Gainesville, FL 32608 2Department of Biochemistry and Mo1ecular Biology Gainesville, FL 32608 3Center for Mammalian Genetics University of Florida Gainesville, FL 32608 4Howard Hughes Medical Institute and Departments of Internal Medicine and Human Genetics, University of Michigan Ann Arbor, MI, USA |
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| Abstract: | ![]()
The gene which is responsible for neurofibromatosis type 1 (NF1)is located on chromosome 17 (17q11.2). The NF1 gene is approximately350 kilobases (kb) long and exhibits an extremely high mutationrate; therefore, most patients are expected to have unique mutations.To date, relatively few mutations have been well characterized.We report here a de novo single base pair (bp) deletion in oneNF1 allele in a patient diagnosed with NF1 and leukemia. Wefurther characterized this mutation at the RNA level by allele-specificoligonucleotide (ASO) hybridization which demonstrated thatthe mutant allele is transcribed. |
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