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Titolo:
The importance of gene dosage studies: mutational analysis of the parkin gene in early-onset parkinsonism
Autore:
Hedrich, K; Kann, M; Lanthaler, AJ; Dalski, A; Eskelson, C; Landt, F; Schwinger, E; Vieregge, P; Lang, AE; Breakefield, XO; Ozelius, LJ; Pramstaller, PP; Klein, C;
Indirizzi:
Med Univ Lubeck, Dept Neurol, D-23538 Lubeck, Germany Med Univ Lubeck Lubeck Germany D-23538 t Neurol, D-23538 Lubeck, Germany Med Univ Lubeck, Dept Human Genet, D-23538 Lubeck, Germany Med Univ Lubeck Lubeck Germany D-23538 an Genet, D-23538 Lubeck, Germany Reg Gen Hosp, Dept Hematol, I-39100 Bolzano, Italy Reg Gen Hosp Bolzano Italy I-39100 Dept Hematol, I-39100 Bolzano, Italy TIB MOLBIOL, D-10829 Berlin, Germany TIB MOLBIOL Berlin Germany D-10829TIB MOLBIOL, D-10829 Berlin, Germany Univ Toronto, Dept Med, Toronto, ON M5S 2S8, Canada Univ Toronto Toronto ON Canada M5S 2S8 t Med, Toronto, ON M5S 2S8, Canada Toronto Western Hosp, Toronto, ON M5S 2S8, Canada Toronto Western Hosp Toronto ON Canada M5S 2S8 oronto, ON M5S 2S8, Canada Harvard Univ, Massachusetts Gen Hosp, Sch Med, Mol Neurogenet Unit, Boston, MA 02129 USA Harvard Univ Boston MA USA 02129 ol Neurogenet Unit, Boston, MA 02129 USA Harvard Univ, Sch Med, Dept Neurol, Boston, MA 02129 USA Harvard Univ Boston MA USA 02129 h Med, Dept Neurol, Boston, MA 02129 USA Harvard Univ, Sch Med, Program Neurosci, Boston, MA 02129 USA Harvard Univ Boston MA USA 02129 , Program Neurosci, Boston, MA 02129 USA Yeshiva Univ Albert Einstein Coll Med, Dept Mol Genet, Bronx, NY 10461 USAYeshiva Univ Albert Einstein Coll Med Bronx NY USA 10461 nx, NY 10461 USA Reg Gen Hosp, Dept Neurol, I-39100 Bolzano, Italy Reg Gen Hosp Bolzano Italy I-39100 , Dept Neurol, I-39100 Bolzano, Italy
Titolo Testata:
HUMAN MOLECULAR GENETICS
fascicolo: 16, volume: 10, anno: 2001,
pagine: 1649 - 1656
SICI:
0964-6906(20010801)10:16<1649:TIOGDS>2.0.ZU;2-J
Fonte:
ISI
Lingua:
ENG
Soggetto:
RECESSIVE JUVENILE PARKINSONISM; UBIQUITIN-PROTEIN LIGASE; HOMOZYGOUS DELETIONS; DISEASE; DIAGNOSIS; FAMILIES;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Life Sciences
Citazioni:
25
Recensione:
Indirizzi per estratti:
Indirizzo: Klein, C Med Univ Lubeck, Dept Neurol, Ratzeburger Allee 160, D-23538 Lubeck, Germany Med Univ Lubeck Ratzeburger Allee 160 Lubeck Germany D-23538 any
Citazione:
K. Hedrich et al., "The importance of gene dosage studies: mutational analysis of the parkin gene in early-onset parkinsonism", HUM MOL GEN, 10(16), 2001, pp. 1649-1656

Abstract

Early-onset parkinsonism (EOP) may be associated with different mutations in the Parkin gene, including exon deletions and duplications. To test for gene dosage alterations, we developed a new method of quantitative duplex PCR using the fluorescence resonance energy transfer technique on the LightCycler (Roche Diagnostics). In 21 patients with EOP, three mutations (a single base pair substitution in exon 3 and small deletions in exon 9) were detected by conventional mutational screening (single-strand conformation polymorphism and sequence analysis), while alterations of gene dosage were found in seven patients. We identified heterozygous and compound heterozygous deletions of exons 2, 3, 5 and 7. The latter was also found in the homozygous state. In addition, two heterozygous duplications of exon 4 were observed. Remarkably, two patients; carried more than two Parkin mutations. This isthe first study systematically screening all 12 exons of Parkin by real-time, kinetic quantification and clearly shows that mutational analysis of the Parkin gene should include gene dosage studies. Furthermore, our method of quantitative PCR is easily applicable to any other gene to be screened for deletions or duplications of whole exons.

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Documento generato il 17/09/19 alle ore 22:38:30