Characterization of the translocation breakpoint on chromosome 22q12.2 in a patient with neurofibromatosis type 2 (NF2).
Hum Mol Genet
; 3(6): 937-9, 1994 Jun.
Article
en En
| MEDLINE
| ID: mdl-7951241
ABSTRACT
We previously described a patient with neurofibromatosis type 2 (NF2) who showed a constitutional balanced translocation, t(4;22). To characterize the breakpoint on chromosome 22 in this patient in relation to a candidate gene (NF2) responsible for NF2, we analyzed DNAs from this patient and her parents using parts of NF2 cDNA as probes. Southern analyses and DNA sequencing revealed that the chromosome 22 breakpoint in this patient lies within the intron between exons 14 and 15 of NF2. The results lend support to the conclusion that NF2 is the gene responsible for the CNS form of neurofibromatosis.
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Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Translocación Genética
/
Cromosomas Humanos Par 4
/
Cromosomas Humanos Par 22
/
Neurofibromatosis 2
/
Genes de la Neurofibromatosis 2
Límite:
Female
/
Humans
/
Male
Idioma:
En
Revista:
Hum Mol Genet
Asunto de la revista:
BIOLOGIA MOLECULAR
/
GENETICA MEDICA
Año:
1994
Tipo del documento:
Article
País de afiliación:
Japón