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Identification of cystic fibrosis mutations in the United Arab Emirates

✍ Scribed by Philippe M. Frossard; Emmanuelle Girodon; Kenneth P. Dawson; Nada Ghanem; François Plassa; Gilles G. Lestringant; Michel Goossens

Publisher
John Wiley and Sons
Year
1998
Tongue
English
Weight
45 KB
Volume
11
Category
Article
ISSN
1059-7794

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✦ Synopsis

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 F508, 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.

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✍ Kabra, Madhulika ;Kabra, S.K. ;Ghosh, Manju ;Khanna, Aarti ;Arora, Sadhana ;Meno 📂 Article 📅 2000 🏛 John Wiley and Sons 🌐 English ⚖ 165 KB 👁 1 views

The suggested incidence of cystic fibrosis (CF) in Asian migrants (Indians and Pakistanis) in the United Kingdom is about 1 in 10,000 to 12,000 [Goodchild et al., 1974]. There are no large studies on CF in Asian Indians. The disorder is thought to be rare and most studies from the Asian subcontinent