Further Evidence of Mutational Heterogeneity of the XPC Gene in Tunisian Families: A Spectrum of Private and Ethnic Specific Mutations

المؤلفون المشاركون

Zghal, Mohamed
Boussen, Hamouda
Jerbi, Manel
Ben Rekaya, Mariem
Fazaa, Becima
Ben Brick, Ahlem Sabrine
Boubaker, Mohamed Samir
Mbarek, Chiraz
Chadli-Debbiche, Ashraf
Yacoub-Youssef, Houda
Mokni, Mourad
Abdelhak, Sonia
Jones, Mariem
Messaoud, Olfa

المصدر

BioMed Research International

العدد

المجلد 2013، العدد 2013 (31 ديسمبر/كانون الأول 2013)، ص ص. 1-7، 7ص.

الناشر

Hindawi Publishing Corporation

تاريخ النشر

2013-07-25

دولة النشر

مصر

عدد الصفحات

7

التخصصات الرئيسية

الطب البشري

الملخص EN

Xeroderma Pigmentosum (XP) is a rare recessive autosomal cancer prone disease, characterized by UV hypersensitivity and early appearance of cutaneous and ocular malignancies.

We investigated four unrelated patients suspected to be XP-C.

To confirm linkage to XPC gene, genotyping and direct sequencing of XPC gene were performed.

Pathogenic effect of novel mutations was confirmed by reverse Transciptase PCR.

Mutation screening revealed the presence of two novel mutations g.18246G>A and g.18810G>T in the XPC gene (NG_011763.1).

The first is present in one patient XP50NEF, but the second is present in three unrelated patients (XP16KEB, XP28SFA, and XP45GB).

These 3 patients are from three different cities of Southern Tunisia and bear the same haplotype, suggesting a founder effect.

Reverse Transciptase PCR revealed the absence of the XPC mRNA.

In Tunisia, as observed in an other severe genodermatosis, the mutational spectrum of XP-C group seems to be homogeneous with some clusters of heterogeneity that should be taken into account to improve molecular diagnosis of this disease.

نمط استشهاد جمعية علماء النفس الأمريكية (APA)

Ben Rekaya, Mariem& Jerbi, Manel& Messaoud, Olfa& Ben Brick, Ahlem Sabrine& Zghal, Mohamed& Mbarek, Chiraz…[et al.]. 2013. Further Evidence of Mutational Heterogeneity of the XPC Gene in Tunisian Families: A Spectrum of Private and Ethnic Specific Mutations. BioMed Research International،Vol. 2013, no. 2013, pp.1-7.
https://search.emarefa.net/detail/BIM-1030365

نمط استشهاد الجمعية الأمريكية للغات الحديثة (MLA)

Ben Rekaya, Mariem…[et al.]. Further Evidence of Mutational Heterogeneity of the XPC Gene in Tunisian Families: A Spectrum of Private and Ethnic Specific Mutations. BioMed Research International No. 2013 (2013), pp.1-7.
https://search.emarefa.net/detail/BIM-1030365

نمط استشهاد الجمعية الطبية الأمريكية (AMA)

Ben Rekaya, Mariem& Jerbi, Manel& Messaoud, Olfa& Ben Brick, Ahlem Sabrine& Zghal, Mohamed& Mbarek, Chiraz…[et al.]. Further Evidence of Mutational Heterogeneity of the XPC Gene in Tunisian Families: A Spectrum of Private and Ethnic Specific Mutations. BioMed Research International. 2013. Vol. 2013, no. 2013, pp.1-7.
https://search.emarefa.net/detail/BIM-1030365

نوع البيانات

مقالات

لغة النص

الإنجليزية

الملاحظات

Includes bibliographical references

رقم السجل

BIM-1030365