Biomaterial Database

Geographic distribution of cystic fibrosis transmembrane regulator gene mutations in Saudi Arabia. 1999

H Banjar

Department of Paediatrics, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia.

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.

UI	MeSH Term	Description	Entries
D008297	Male		Males
D009154	Mutation	Any detectable and heritable change in the genetic material that causes a change in the GENOTYPE and which is transmitted to daughter cells and to succeeding generations.	Mutations
D010375	Pedigree	The record of descent or ancestry, particularly of a particular condition or trait, indicating individual family members, their relationships, and their status with respect to the trait or condition.	Family Tree,Genealogical Tree,Genealogic Tree,Genetic Identity,Identity, Genetic,Family Trees,Genealogic Trees,Genealogical Trees,Genetic Identities,Identities, Genetic,Tree, Family,Tree, Genealogic,Tree, Genealogical,Trees, Family,Trees, Genealogic,Trees, Genealogical
D010641	Phenotype	The outward appearance of the individual. It is the product of interactions between genes, and between the GENOTYPE and the environment.	Phenotypes
D011159	Population Surveillance	Ongoing scrutiny of a population (general population, study population, target population, etc.), generally using methods distinguished by their practicability, uniformity, and frequently their rapidity, rather than by complete accuracy.	Surveillance, Population
D012111	Residence Characteristics	Elements of residence that characterize a population. They are applicable in determining need for and utilization of health services.	Community,Domicile,Living Arrangements,Neighborhood,Place of Birth,Residential Selection,Arrangement, Living,Birth Place,Communities,Domiciles,Living Arrangement,Neighborhoods,Residence Characteristic
D003241	Consanguinity	The magnitude of INBREEDING in humans.	Inbreeding, Human,Consanguineous Marriage,Consanguinous Mating,Consanguineous Marriages,Consanguinities,Consanguinous Matings,Human Inbreeding,Human Inbreedings,Inbreedings, Human,Marriage, Consanguineous,Marriages, Consanguineous,Mating, Consanguinous,Matings, Consanguinous
D003550	Cystic Fibrosis	An autosomal recessive genetic disease of the EXOCRINE GLANDS. It is caused by mutations in the gene encoding the CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR expressed in several organs including the LUNG, the PANCREAS, the BILIARY SYSTEM, and the SWEAT GLANDS. Cystic fibrosis is characterized by epithelial secretory dysfunction associated with ductal obstruction resulting in AIRWAY OBSTRUCTION; chronic RESPIRATORY INFECTIONS; PANCREATIC INSUFFICIENCY; maldigestion; salt depletion; and HEAT PROSTRATION.	Mucoviscidosis,Cystic Fibrosis of Pancreas,Fibrocystic Disease of Pancreas,Pancreatic Cystic Fibrosis,Pulmonary Cystic Fibrosis,Cystic Fibrosis, Pancreatic,Cystic Fibrosis, Pulmonary,Fibrosis, Cystic,Pancreas Fibrocystic Disease,Pancreas Fibrocystic Diseases
D005260	Female		Females
D005787	Gene Frequency	The proportion of one particular in the total of all ALLELES for one genetic locus in a breeding POPULATION.	Allele Frequency,Genetic Equilibrium,Equilibrium, Genetic,Allele Frequencies,Frequencies, Allele,Frequencies, Gene,Frequency, Allele,Frequency, Gene,Gene Frequencies