Relative Frequencies of Three Cystic Fibrosis Mutations in North Jordan; “F508, W1282X, and N1303K

  title={Relative Frequencies of Three Cystic Fibrosis Mutations in North Jordan; “F508, W1282X, and N1303K},
  author={Fawzi Mohammad Al Sheyab and S. M. Ballat and Mohammad A. Rawashdeh},
  journal={International Journal of Human Genetics},
  pages={137 - 140}
Abstract 120 Patients from North Jordan were screened for three cystic fibrosis mutations; “F508, W1282X, and N1303K. This study identified “F508 (23.75%) and W1282X (15%) only. N1303K was not detected, although it was reported earlier from Jordan in low frequency. 
Is Phoenicia the Origin of the N1303K CFTR Mutation?
2) The lack of intra-communities mixing [7] and the consanguineous marriage that has a prevalence of 35.5% especially in the non-Christian communities and suburbs of Beirut [8] tend to extent the
Clinical Presentation, Genotype and Microbiological Data among Cystic Fibrosis Children at King Hussein Medical Center
There are diverse clinical presentations and genotypic features among children with classic cystic fibrosis treated at King Hussein Medical Center, and a complete analysis of the DNA mutation would be helpful in knowing the most prevalent mutations in the population.
The use of sweat chloride test for screening cystic fibrosis among malnourished children suffering from frequent respiratory infections.
A sweat chloride result of >57 mmol/L seems to strongly suggest the likelihood of cystic fibrosis, and should trigger further investigation in patients who have frequent respiratory symptoms and have failed to thrive.


Study of 12 mutations in Turkish cystic fibrosis patients.
67 unrelated cystic fibrosis (CF) patients were screened for some of the most common mutations of the CFTR gene. This analysis resulted in the identification of 34.6% of all CF alleles. The most
Cystic fibrosis in Lebanon: distribution of CFTR mutations among Arab communities
A sample of 20 families living in Lebanon for several generations and who have at least one child with CF found a 50% rate of consanguineous marriage, independent of the community of origin, and two previously undescribed polymorphisms were also identified.
Prevalence of cystic fibrosis mutations in Israeli Jews.
It is found that the CF mutations D1152H, W1089X, and 405 + IG-->A were present in some ethnic groups in which no CF patients carrying these mutations were reported, and necessitate a reevaluation of the screening policy regarding the Ethnic groups in Israel.
Identification of novel mutations in Arabs with cystic fibrosis and their impact on the cystic fibrosis transmembrane regulator mutation detection rate in Arab populations
The CFTR mutation detection rate among Arabs with cystic fibrosis is now comparable to that of other populations, as a result of this study.
Analysis of the CFTR gene in Turkish cystic fibrosis patients: identification of three novel mutations (3172delAC, P1013L and M1028I)
A complete coding region of the cystic fibrosis transmembrane conductance regulator (CFTR) gene including exon-intron boundaries, on 122 unrelated CF chromosomes from 73 Turkish CF families was analysed by denaturing gradient gel electrophoresis and multiplex heteroduplex analysis on MDE gel matrix.
Cystic fibrosis in Uruguay.
This group of Uruguayan CF patients has some characteristics in common with other populations of similar origin (Hispanics), as well as some unique characteristics.
Early diagnosis of cystic fibrosis in Jordanian children.
  • H. Nazer
  • Medicine
    Journal of tropical pediatrics
  • 1992
In a prospective study, 7682 neonates from 10 different hospitals in Jordan were screened for CF using the BM test for meconium albumin, and Cystic fibrosis was confirmed in three by sweat chloride test using pilocarpine iontophoresis.
Two patients with cystic fibrosis, nonsense mutations in each cystic fibrosis gene, and mild pulmonary disease.
Epithelial cells from patients with cystic fibrosis have abnormal conductance of chloride ions across apical membranes due to defective regulation of a particular chloride channel, believed to cause the insufficient hydration of mucus in the airways and pancreatic ducts.
Highly variable incidence of cystic fibrosis and different mutation distribution among different Jewish ethnic groups in Israel
The incidence of cystic fibrosis and the distribution of CF mutations in the general Jewish population in Israel and in most of the Jewish ethnic subgroups is analyzed to provide the required information for genetic counseling of Jewish CF families and screening programs of Jewish populations worldwide.
Cystic fibrosis in Jordan: a pilot study.
As CF was only recently recognized in Jordan, it is believed that the prevalence of CF among Jordanian children is underestimated and further prospective study to evaluate its prevalence and impact on child health in Jordan is urgently needed.