{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,7]],"date-time":"2026-10-07T22:51:25Z","timestamp":1791413485015,"version":"4.3.3"},"reference-count":42,"publisher":"Hindawi Limited","license":[{"start":{"date-parts":[[2016,1,1]],"date-time":"2016-01-01T00:00:00Z","timestamp":1451606400000},"content-version":"unspecified","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["BioMed Research International"],"published-print":{"date-parts":[[2016]]},"abstract":"<jats:p><jats:italic>Xeroderma pigmentosum<\/jats:italic>(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<jats:italic>XPA<\/jats:italic>and<jats:italic>XPC<\/jats:italic>genes mutations\u2014nonsense mutation (c.682C&gt;T, p.Arg228X) and a two-base-pair (2\u2009bp) deletion (c.1643_1644delTG or p.Val548Ala fsX25), respectively\u2014in 19 index cases from 19 unrelated families in the West of Algeria. For the genetic diagnosis of<jats:italic>XPA<\/jats:italic>gene, we proceeded to PCR-RFLP. For the<jats:italic>XPC<\/jats:italic>gene, we validated a routine analysis which includes a specific amplification of a short region surrounding the 2\u2009bp 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\u2009bp deletion in the<jats:italic>XPC<\/jats:italic>gene and 2 homozygous patients carrying the nonsense<jats:italic>XPA<\/jats:italic>mutation. Finally,<jats:italic>XPC<\/jats:italic>appears to be the major disease-causing gene concerning<jats:italic>xeroderma pigmentosum<\/jats:italic>in North Africa. The use of fragment sizing is the simplest method to analyze this 2\u2009bp deletion for the DNA samples coming from countries where the mutation c.1643_1644delTG of<jats:italic>XPC<\/jats:italic>gene is prevalent.<\/jats:p>","DOI":"10.1155\/2016\/2180946","type":"journal-article","created":{"date-parts":[[2016,6,20]],"date-time":"2016-06-20T21:03:51Z","timestamp":1466456631000},"page":"1-7","source":"Crossref","is-referenced-by-count":29,"title":["Diagnosis of<i>Xeroderma Pigmentosum<\/i>Groups A and C by Detection of Two Prevalent Mutations in West Algerian Population: A Rapid Genotyping Tool for the Frequent<i>XPC<\/i>Mutation c.1643_1644delTG"],"prefix":"10.1155","volume":"2016","author":[{"given":"Salima","family":"Bensenouci","sequence":"first","affiliation":[{"name":"Laboratoire de G\u00e9n\u00e9tique Mol\u00e9culaire et Cellulaire, D\u00e9partement de G\u00e9n\u00e9tique Mol\u00e9culaire Appliqu\u00e9e, Facult\u00e9 des Sciences de la Nature et de la Vie, Universit\u00e9 des Sciences et de la Technologie d\u2019Oran-Mohamed Boudiaf (USTO-MB), BP 1505, El M\u2019naouer, 31000 Oran, Algeria"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lotfi","family":"Louhibi","sequence":"additional","affiliation":[{"name":"Laboratoire de G\u00e9n\u00e9tique Mol\u00e9culaire et Cellulaire, D\u00e9partement de G\u00e9n\u00e9tique Mol\u00e9culaire Appliqu\u00e9e, Facult\u00e9 des Sciences de la Nature et de la Vie, Universit\u00e9 des Sciences et de la Technologie d\u2019Oran-Mohamed Boudiaf (USTO-MB), BP 1505, El M\u2019naouer, 31000 Oran, Algeria"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hubert","family":"De Verneuil","sequence":"additional","affiliation":[{"name":"INSERM U1035, Bioth\u00e9rapies des Maladies G\u00e9n\u00e9tiques et Cancers, Universit\u00e9 de Bordeaux, 146 rue L\u00e9o Saignat, 33000 Bordeaux Cedex, France"},{"name":"Service de Biochimie, P\u00f4le de Biologie et Pathologie, H\u00f4pital Pellegrin, Place 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