Small Deletion at the 7q21.2 Locus in a CCM Family Detected by Real-Time Quantitative PCR
المؤلفون المشاركون
Pulcrano, Giuseppe
Muscarella, Lucia Anna
Belli, Serena
D'Angelo, Vincenzo A.
Catapano, Domenico
Coco, Michelina
Guarnieri, Vito
Zelante, Leopoldo
D'Agruma, Leonardo
Parrella, Paola
المصدر
Journal of Biomedicine and Biotechnology
العدد
المجلد 2010، العدد 2010 (31 ديسمبر/كانون الأول 2010)، ص ص. 1-7، 7ص.
الناشر
Hindawi Publishing Corporation
تاريخ النشر
2010-07-27
دولة النشر
مصر
عدد الصفحات
7
التخصصات الرئيسية
الملخص 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.
نمط استشهاد جمعية علماء النفس الأمريكية (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. Journal of Biomedicine and Biotechnology،Vol. 2010, no. 2010, pp.1-7.
https://search.emarefa.net/detail/BIM-503646
نمط استشهاد الجمعية الأمريكية للغات الحديثة (MLA)
Muscarella, Lucia Anna…[et al.]. Small Deletion at the 7q21.2 Locus in a CCM Family Detected by Real-Time Quantitative PCR. Journal of Biomedicine and Biotechnology No. 2010 (2010), pp.1-7.
https://search.emarefa.net/detail/BIM-503646
نمط استشهاد الجمعية الطبية الأمريكية (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. Journal of Biomedicine and Biotechnology. 2010. Vol. 2010, no. 2010, pp.1-7.
https://search.emarefa.net/detail/BIM-503646
نوع البيانات
مقالات
لغة النص
الإنجليزية
الملاحظات
Includes bibliographical references
رقم السجل
BIM-503646
قاعدة معامل التأثير والاستشهادات المرجعية العربي "ارسيف Arcif"
أضخم قاعدة بيانات عربية للاستشهادات المرجعية للمجلات العلمية المحكمة الصادرة في العالم العربي
تقوم هذه الخدمة بالتحقق من التشابه أو الانتحال في الأبحاث والمقالات العلمية والأطروحات الجامعية والكتب والأبحاث باللغة العربية، وتحديد درجة التشابه أو أصالة الأعمال البحثية وحماية ملكيتها الفكرية. تعرف اكثر