Geographic distribution of cystic fibrosis transmembrane regulator gene mutations in Saudi Arabia

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dc.creatorBanjar, H.
dc.date2014-06-17T10:43:23Z
dc.date2014-06-17T10:43:23Z
dc.date1999-12-31
dc.date.accessioned2026-08-03T14:34:02Z
dc.description1230-1235
dc.descriptionA descriptive study was undertaken to characterize cystic fibrosis transmembrane regulator [CFTR] gene mutations in the Saudi Arabian cystic fibrosis [CF] population in relation to their clinical picture, demographic features and ethnic origin. From October 1992 to September 1997, 70 patients [46 families] diagnosed with CF were screened for CFTR mutations. A total of 12 mutations were identified in 34 families [70% of the CF alleles in the study group]. Most of the families were native Saudis, and in 88% of the families the parents were in consanguineous marriages. The most common Saudi mutations were 1548delG and I1234V. There was no significant difference in the clinical picture between patients of different ethnic origins with the same CFTR mutation
dc.formatapplication/pdf
dc.identifier1020-3397
dc.identifierhttp://applications.emro.who.int/emhj/0506/EMHJ_1999_5_6_1230_1235.pdf
dc.identifierhttps://iris.who.int/handle/10665/118824
dc.identifier.urihttps://repo.dare.co.zw/handle/123456789/268042
dc.languageEnglish
dc.languageen
dc.relationEMHJ - Eastern Mediterranean Health Journal, 5 (6), 1230-1235, 1999
dc.subjectConsanguinity
dc.subjectCystic Fibrosis Transmembrane Conductance Regulator
dc.subjectGene Frequency
dc.subjectGenetic Screening
dc.subjectMutation
dc.subjectPhenotype
dc.subjectResidence Characteristics
dc.subjectCystic Fibrosis
dc.titleGeographic distribution of cystic fibrosis transmembrane regulator gene mutations in Saudi Arabia

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