Open AccessGeographic distribution of cystic fibrosis transmembrane regulator gene mutations in Saudi Arabia
Author(s) -
Hanaa Banjar
Publication year - 1999
Publication title -
eastern mediterranean health journal/eastern mediterranean health journal
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.442
H-Index - 47
eISSN - 1687-1634
pISSN - 1020-3397
DOI - 10.26719/1999.5.6.1230
Subject(s) - cystic fibrosis , allele , genetics , mutation , ethnic group , medicine , cystic fibrosis transmembrane conductance regulator , gene , consanguinity , population , biology , environmental health , sociology , anthropology
A 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