title: 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.
abstract: 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.
authors.affiliation: Laboratoire de Génétique Moléculaire et Cellulaire, Département de Génétique Moléculaire Appliquée, Faculté des Sciences de la Nature et de la Vie, Université des Sciences et de la Technologie d'Oran-Mohamed Boudiaf (USTO-MB), BP 1505, El M'naouer, 31000 Oran, Algeria.
authors.forename: Salima
authors.initials: S
authors.lastname: Bensenouci
authors.affiliation: Laboratoire de Génétique Moléculaire et Cellulaire, Département de Génétique Moléculaire Appliquée, Faculté des Sciences de la Nature et de la Vie, Université des Sciences et de la Technologie d'Oran-Mohamed Boudiaf (USTO-MB), BP 1505, El M'naouer, 31000 Oran, Algeria.
authors.forename: Lotfi
authors.initials: L
authors.lastname: Louhibi
authors.affiliation: INSERM U1035, Biothérapies des Maladies Génétiques et Cancers, Université de Bordeaux, 146 rue Léo Saignat, 33000 Bordeaux Cedex, France; Service de Biochimie, Pôle de Biologie et Pathologie, Hôpital Pellegrin, Place Amélie Raba-Léon, 33000 Bordeaux Cedex, France.
authors.forename: Hubert
authors.initials: H
authors.lastname: De Verneuil
authors.affiliation: Service d'Ophtalmologie, Hôpital Pédiatrique de Canastel, rue du 1er Novembre, Bir El Djir, 31130 Oran, Algeria.
authors.forename: Khadidja
authors.initials: K
authors.lastname: Mahmoudi
authors.affiliation: Laboratoire de Génétique Moléculaire et Cellulaire, Département de Génétique Moléculaire Appliquée, Faculté des Sciences de la Nature et de la Vie, Université des Sciences et de la Technologie d'Oran-Mohamed Boudiaf (USTO-MB), BP 1505, El M'naouer, 31000 Oran, Algeria.
authors.forename: Nadhira
authors.initials: N
authors.lastname: Saidi-Mehtar
mesh_terms: D000293:Adolescent; D000462:Algeria; D002648:Child; D002675:Child, Preschool; D004249:DNA Damage; D004252:DNA Mutational Analysis / Q000379:methods*; D004268:DNA-Binding Proteins / Q000235:genetics*; D005091:Exons; D005260:Female; D005456:Fluorescent Dyes / Q000737:chemistry; D017353:Gene Deletion; D005838:Genotype; D006579:Heterozygote; D006720:Homozygote; D006801:Humans; D008297:Male; D009154:Mutation; D016133:Polymerase Chain Reaction; D012150:Polymorphism, Restriction Fragment Length; D012867:Skin / Q000378:metabolism; D014983:Xeroderma Pigmentosum / Q000175:diagnosis / Q000208:ethnology / Q000235:genetics*; D051760:Xeroderma Pigmentosum Group A Protein / Q000235:genetics*; D055815:Young Adult
chemical_list: D004268:DNA-Binding Proteins; D005456:Fluorescent Dyes; C497314:XPA protein, human; D051760:Xeroderma Pigmentosum Group A Protein; C086984:XPC protein, human