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A Founder Large Deletion Mutation in Xeroderma Pigmentosum-Variant Form in Tunisia : Implication for Molecular Diagnosis and Therapy
المؤلفون المشاركون
Zghal, Mohamed
Kefi, Rym
Boussen, Hamouda
Jerbi, Manel
Ben Rekaya, Mariem
Fazaa, Becima
Boubaker, Mohamed Samir
Chargui, Mariem
Bouyacoub, Yosra
Yacoub-Youssef, Houda
Mokni, Mourad
Abdelhak, Sonia
Laroussi, Nadia
Jones, Mariem
Naouali, Chokri
Messaoud, Olfa
Khaled, Aida
المصدر
العدد
المجلد 2014، العدد 2014 (31 ديسمبر/كانون الأول 2014)، ص ص. 1-8، 8ص.
الناشر
Hindawi Publishing Corporation
تاريخ النشر
2014-05-03
دولة النشر
مصر
عدد الصفحات
8
التخصصات الرئيسية
الملخص EN
Xeroderma pigmentosum Variant (XP-V) form is characterized by a late onset of skin symptoms.
Our aim is the clinical and genetic investigations of XP-V Tunisian patients in order to develop a simple tool for early diagnosis.
We investigated 16 suspected XP patients belonging to ten consanguineous families.
Analysis of the POLH gene was performed by linkage analysis, long range PCR, and sequencing.
Genetic analysis showed linkage to the POLH gene with a founder haplotype in all affected patients.
Long range PCR of exon 9 to exon 11 showed a 3926 bp deletion compared to control individuals.
Sequence analysis demonstrates that this deletion has occurred between two Alu-Sq2 repetitive sequences in the same orientation, respectively, in introns 9 and 10.
We suggest that this mutation POLH NG_009252.1: g.36847_40771del3925 is caused by an equal crossover event that occurred between two homologous chromosomes at meiosis.
These results allowed us to develop a simple test based on a simple PCR in order to screen suspected XP-V patients.
In Tunisia, the prevalence of XP-V group seems to be underestimated and clinical diagnosis is usually later.
Cascade screening of this founder mutation by PCR in regions with high frequency of XP provides a rapid and cost-effective tool for early diagnosis of XP-V in Tunisia and North Africa.
نمط استشهاد جمعية علماء النفس الأمريكية (APA)
Ben Rekaya, Mariem& Laroussi, Nadia& Messaoud, Olfa& Jones, Mariem& Jerbi, Manel& Naouali, Chokri…[et al.]. 2014. A Founder Large Deletion Mutation in Xeroderma Pigmentosum-Variant Form in Tunisia : Implication for Molecular Diagnosis and Therapy. BioMed Research International،Vol. 2014, no. 2014, pp.1-8.
https://search.emarefa.net/detail/BIM-457847
نمط استشهاد الجمعية الأمريكية للغات الحديثة (MLA)
Ben Rekaya, Mariem…[et al.]. A Founder Large Deletion Mutation in Xeroderma Pigmentosum-Variant Form in Tunisia : Implication for Molecular Diagnosis and Therapy. BioMed Research International No. 2014 (2014), pp.1-8.
https://search.emarefa.net/detail/BIM-457847
نمط استشهاد الجمعية الطبية الأمريكية (AMA)
Ben Rekaya, Mariem& Laroussi, Nadia& Messaoud, Olfa& Jones, Mariem& Jerbi, Manel& Naouali, Chokri…[et al.]. A Founder Large Deletion Mutation in Xeroderma Pigmentosum-Variant Form in Tunisia : Implication for Molecular Diagnosis and Therapy. BioMed Research International. 2014. Vol. 2014, no. 2014, pp.1-8.
https://search.emarefa.net/detail/BIM-457847
نوع البيانات
مقالات
لغة النص
الإنجليزية
الملاحظات
Includes bibliographical references
رقم السجل
BIM-457847
قاعدة معامل التأثير والاستشهادات المرجعية العربي "ارسيف Arcif"
أضخم قاعدة بيانات عربية للاستشهادات المرجعية للمجلات العلمية المحكمة الصادرة في العالم العربي
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