Diagnosis of Xeroderma Pigmentosum Groups A and C by Detection of Two Prevalent Mutations in West Algerian Population: A Rapid Genotyping Tool for the Frequent XPC Mutation c.1643_1644delTG
Joint Authors
Bensenouci, Salima
Louhibi, Lotfi
De Verneuil, Hubert
Mahmoudi, Khadidja
Saidi-Mehtar, Nadhira
Source
Issue
Vol. 2016, Issue 2016 (31 Dec. 2016), pp.1-7, 7 p.
Publisher
Hindawi Publishing Corporation
Publication Date
2016-06-20
Country of Publication
Egypt
No. of Pages
7
Main Subjects
Abstract EN
Xeroderma pigmentosum (XP) is a rare autosomal recessive disorder.
Considering that XP patients have a defect of the nucleotide excision repair (NER) pathway which enables them to repair DNA damage caused by UV light, they have an increased risk of developing skin and eyes cancers.
In the present study, we investigated the involvement of the prevalent XPA and XPC genes mutations—nonsense mutation (c.682C>T, p.Arg228X) and a two-base-pair (2 bp) deletion (c.1643_1644delTG or p.Val548Ala fsX25), respectively—in 19 index cases from 19 unrelated families in the West of Algeria.
For the genetic diagnosis of XPA gene, we proceeded to PCR-RFLP.
For the XPC gene, we validated a routine analysis which includes a specific amplification of a short region surrounding the 2 bp deletion using a fluorescent primer and fragment sizing (GeneScan size) on a sequencing gel.
Among the 19 index cases, there were 17 homozygous patients for the 2 bp deletion in the XPC gene and 2 homozygous patients carrying the nonsense XPA mutation.
Finally, XPC appears to be the major disease-causing gene concerning xeroderma pigmentosum in North Africa.
The use of fragment sizing is the simplest method to analyze this 2 bp deletion for the DNA samples coming from countries where the mutation c.1643_1644delTG of XPC gene is prevalent.
American Psychological Association (APA)
Bensenouci, Salima& Louhibi, Lotfi& De Verneuil, Hubert& Mahmoudi, Khadidja& Saidi-Mehtar, Nadhira. 2016. Diagnosis of Xeroderma Pigmentosum Groups A and C by Detection of Two Prevalent Mutations in West Algerian Population: A Rapid Genotyping Tool for the Frequent XPC Mutation c.1643_1644delTG. BioMed Research International،Vol. 2016, no. 2016, pp.1-7.
https://search.emarefa.net/detail/BIM-1097051
Modern Language Association (MLA)
Bensenouci, Salima…[et al.]. Diagnosis of Xeroderma Pigmentosum Groups A and C by Detection of Two Prevalent Mutations in West Algerian Population: A Rapid Genotyping Tool for the Frequent XPC Mutation c.1643_1644delTG. BioMed Research International No. 2016 (2016), pp.1-7.
https://search.emarefa.net/detail/BIM-1097051
American Medical Association (AMA)
Bensenouci, Salima& Louhibi, Lotfi& De Verneuil, Hubert& Mahmoudi, Khadidja& Saidi-Mehtar, Nadhira. Diagnosis of Xeroderma Pigmentosum Groups A and C by Detection of Two Prevalent Mutations in West Algerian Population: A Rapid Genotyping Tool for the Frequent XPC Mutation c.1643_1644delTG. BioMed Research International. 2016. Vol. 2016, no. 2016, pp.1-7.
https://search.emarefa.net/detail/BIM-1097051
Data Type
Journal Articles
Language
English
Notes
Includes bibliographical references
Record ID
BIM-1097051