![](/images/graphics-bg.png)
Small Deletion at the 7q21.2 Locus in a CCM Family Detected by Real-Time Quantitative PCR
Joint Authors
Pulcrano, Giuseppe
Muscarella, Lucia Anna
Belli, Serena
D'Angelo, Vincenzo A.
Catapano, Domenico
Coco, Michelina
Guarnieri, Vito
Zelante, Leopoldo
D'Agruma, Leonardo
Parrella, Paola
Source
Issue
Vol. 2010, Issue 2010 (31 Dec. 2009), pp.1-7, 7 p.
Publisher
Hindawi Publishing Corporation
Publication Date
2010-07-12
Country of Publication
Egypt
No. of Pages
7
Main Subjects
Abstract EN
Cerebral cavernous malformations (CCMs) represent a common autosomal dominant disorder that predisposes patients to haemorrhagic strokes and focal neurological signs.
About 56% of the hereditary forms of CCMs have been so far associated with mutations in the KRIT1 (Krev Interaction Trapped 1) gene, located at 7q21.2 (CCM1 locus).
We described the complete loss of 7q21.2 locus encompassing the KRIT1 gene and 4 flanking genes in a CCM family by using a dense set of 12 microsatellite markers.
The complete loss of the maternal copy of KRIT1 gene region was confirmed by Real-Time Quantitative Polymerase Chain Reaction (RT-QPCR) and the same approach was used for expression analysis.
Additional RT-QPCR analysis showed the extension of the deletion, for a total of 700 kb, to the adjacent downstream and upstream-located genes, MTERF, AKAP9, CYP51A1, as well as a partial loss of the ANKIB1 gene.
Here we report the molecular characterization of an interstitial small genomic deletion of the 7q21.2 region in a CCMs affected family, encompassing the KRIT1 gene.
Our findings confirm the loss of function mechanism for the already known CCM1 locus, without any evident involvement of the other deleted genes.
Moreover, our investigations highlight the usefulness of the RT-QPCR to the molecular characterization of the breakpoints genomic deletions and to the identification of internal deleted genes involved in the human genetic diseases.
American Psychological Association (APA)
Muscarella, Lucia Anna& Guarnieri, Vito& Coco, Michelina& Belli, Serena& Parrella, Paola& Pulcrano, Giuseppe…[et al.]. 2010. Small Deletion at the 7q21.2 Locus in a CCM Family Detected by Real-Time Quantitative PCR. BioMed Research International،Vol. 2010, no. 2010, pp.1-7.
https://search.emarefa.net/detail/BIM-989154
Modern Language Association (MLA)
Muscarella, Lucia Anna…[et al.]. Small Deletion at the 7q21.2 Locus in a CCM Family Detected by Real-Time Quantitative PCR. BioMed Research International No. 2010 (Dec. 2010), pp.1-7.
https://search.emarefa.net/detail/BIM-989154
American Medical Association (AMA)
Muscarella, Lucia Anna& Guarnieri, Vito& Coco, Michelina& Belli, Serena& Parrella, Paola& Pulcrano, Giuseppe…[et al.]. Small Deletion at the 7q21.2 Locus in a CCM Family Detected by Real-Time Quantitative PCR. BioMed Research International. 2010. Vol. 2010, no. 2010, pp.1-7.
https://search.emarefa.net/detail/BIM-989154
Data Type
Journal Articles
Language
English
Notes
Includes bibliographical references
Record ID
BIM-989154