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Identification of cystic fibrosis mutations in the United Arab Emirates
Author(s) -
Frossard Philippe M.,
Girodon Emmanuelle,
Dawson Kenneth P.,
Ghanem Nada,
Plassa François,
Lestringant Gilles G.,
Goossens Michel
Publication year - 1998
Publication title -
human mutation
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.981
H-Index - 162
eISSN - 1098-1004
pISSN - 1059-7794
DOI - 10.1002/(sici)1098-1004(1998)11:5<412::aid-humu15>3.0.co;2-o
Subject(s) - biology , identification (biology) , cystic fibrosis , genetics , mutation , computational biology , gene , botany
We have designed a study aimed at identifying the genetic mutations responsible for cystic fibrosis (CF) in the population of the United Arab Emirates. The prevalence of CF in the UAE is at least 1/15,000 live births and the disease is associated with very severe clinical presentations. We have investigated 17 unrelated families. Ten UAE national families were of Bedouin descent: all 15 CF patients, who presented with very severe forms of the disease, were homozygous for a S549R mutation due to a T→G transversion at nucleotide position 1779. Amongst a distinct population of Baluch origin, CF patients from 6 out of 7 affected families were DF508 homozyotes. Hence, the unique distribution of CF mutations in the United Arab Emirates ‐ two mutations, S549R and DF508, characterize so far 94% of CF families ‐ should allow efficient organizing and delivering of CF carrier screening programmes on the country's relatively limited population size. Hum Mutat 11:412–413, 1998. © 1998 Wiley‐Liss, Inc.