Detection of a neurofibromatosis type I (NF1) homologous sequence by PCR: implications for the diagnosis and screening of genetic diseases.
The neurofibromatosis type I (NF1) gene was extensively screened for mutations using single strand conformation polymorphism (SSCP) technology. During the analysis of the NF1 GAP-related domain, electrophoretically abnormal fragments were detected. Direct sequencing of these fragments allowed us to identify the presence of a NF1 highly homologous sequence (NF1HHS). A detailed analysis of a hybrid panel located this sequence on chromosome 15q24-->qter. An accurate search through several data banks demonstrated that this sequence is a new NF1 homologue. This report shows how it is possible to find homologous sequences at random, and subsequently to make wrong interpretations.
Gasparini
P
P
Servizio di Genetica Medica, IRCCS-Ospedale CSS, San Giovanni Rotondo, Italy.
Grifa
A
A
Origone
P
P
Coviello
D
D
Antonacci
R
R
Rocchi
M
M
D000818:Animals; D001483:Base Sequence; D002874:Chromosome Mapping; D002884:Chromosomes, Human, Pair 15; D006224:Cricetinae; D004252:DNA Mutational Analysis; D016514:Genes, Neurofibromatosis 1; D005820:Genetic Testing / Q000379:methods*; D006801:Humans; D006822:Hybrid Cells; D008969:Molecular Sequence Data; D009456:Neurofibromatosis 1 / Q000175:diagnosis* / Q000235:genetics; D016133:Polymerase Chain Reaction; D011544:Pseudogenes; D012689:Sequence Homology, Nucleic Acid