TY - JOUR
T1 - Detection of a neurofibromatosis type I (NF1) homologous sequence by PCR
T2 - Implications for the diagnosis and screening of genetic diseases
AU - Gasparini, P.
AU - Grifa, A.
AU - Origone, P.
AU - Coviello, D.
AU - Antonacci, R.
AU - Rocchi, M.
PY - 1993
Y1 - 1993
N2 - 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.
AB - 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.
KW - Homologous sequences
KW - Neurofibromatosis type I (NF1)
KW - PCR
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U2 - 10.1006/mcpr.1993.1061
DO - 10.1006/mcpr.1993.1061
M3 - Article
C2 - 8264676
AN - SCOPUS:0027434848
VL - 7
SP - 415
EP - 418
JO - Molecular and Cellular Probes
JF - Molecular and Cellular Probes
SN - 0890-8508
IS - 5
ER -