Skip to content
Home
About Us
Resources
Profiles Metrics
Authors Directory
Institutions Directory
Top Authors
Top Institutions
Top Sponsors
AI Digest
Contact Us
Menu
Home
About Us
Resources
Profiles Metrics
Authors Directory
Institutions Directory
Top Authors
Top Institutions
Top Sponsors
AI Digest
Contact Us
Home
About Us
Resources
Profiles Metrics
Authors Directory
Institutions Directory
Top Authors
Top Institutions
Top Sponsors
AI Digest
Contact Us
Menu
Home
About Us
Resources
Profiles Metrics
Authors Directory
Institutions Directory
Top Authors
Top Institutions
Top Sponsors
AI Digest
Contact Us
Publication Details
AFRICAN RESEARCH NEXUS
SHINING A SPOTLIGHT ON AFRICAN RESEARCH
biochemistry, genetics and molecular biology
A founder large deletion mutation in xeroderma pigmentosum-variant form in Tunisia: Implication for molecular diagnosis and therapy
BioMed Research International, Volume 2014, Article 256245, Year 2014
Notification
URL copied to clipboard!
Description
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. © 2014 Mariem Ben Rekaya et al.
Authors & Co-Authors
Ben Rekaya, Mariem
Tunisia, Tunis
Institut Pasteur de Tunis
Laroussi, Nadia
Tunisia, Tunis
Institut Pasteur de Tunis
Messaoud, Olfa
Tunisia, Tunis
Institut Pasteur de Tunis
Jones, M.
Tunisia, Tunis
Institut Pasteur de Tunis
Tunisia, Tunis
Université de Tunis el Manar, Hôpital Charles Nicolle
Jerbi, Manel
Tunisia, Tunis
Institut Pasteur de Tunis
Naouali, Chokri
Tunisia, Tunis
Institut Pasteur de Tunis
Bouyacoub, Yosra
Tunisia, Tunis
Institut Pasteur de Tunis
Chargui, Mariem
Tunisia, Tunis
Institut Pasteur de Tunis
Kefi, R.
Tunisia, Tunis
Institut Pasteur de Tunis
Fazaa, Bassima
Tunisia, Tunis
Institut Pasteur de Tunis
Tunisia, Tunis
Université de Tunis el Manar, Hôpital Charles Nicolle
Boubaker, Mohamed Samir
Tunisia, Tunis
Institut Pasteur de Tunis
Boussen, Hamouda
Tunisia, Ariana
Université de Tunis el Manar, Hôpital Abderrahmène Mami
Mokni, Mourad
Tunisia, Tunis
Hôpital la Rabta
Abdelhak, Sonia
Tunisia, Tunis
Institut Pasteur de Tunis
Zghal, Mohammed
Tunisia, Tunis
Université de Tunis el Manar, Hôpital Charles Nicolle
Khaled, Aïda
Tunisia, Tunis
Institut Pasteur de Tunis
Tunisia, Tunis
Université de Tunis el Manar, Hôpital Charles Nicolle
Yacoub-Youssef, H.
Tunisia, Tunis
Institut Pasteur de Tunis
Statistics
Citations: 17
Authors: 17
Affiliations: 4
Identifiers
Doi:
10.1155/2014/256245
ISSN:
23146133
e-ISSN:
23146141
Research Areas
Cancer
Genetics And Genomics
Study Design
Cross Sectional Study
Study Locations
Multi-countries
Tunisia