منابع مشابه
Genetic variation and clinical heterogeneity in cystic fibrosis.
Cystic fibrosis (CF), a lethal genetic disease, is characterized by substantial clinical heterogeneity. Work over the past decade has established that much of the variation is genetically conferred, and recent studies have begun to identify chromosomal locations that identify specific genes as contributing to this variation. Transcriptomic and proteomic data, sampling hundreds and thousands of ...
متن کاملPhenotypic heterogeneity in cystic fibrosis.
We have confirmed heterogeneity in CF using a different combination of primary clinical variables than those used in previous studies. Subgroupings of individuals with similar levels of sweat chloride were independent of the clustering based on level of pancreatic enzyme supplementation and degree of pulmonary involvement. Data from families with multiple CF children are consistent with the hyp...
متن کاملGenetic homogeneity of cystic fibrosis.
We studied large Amish/Mennonite/Hutterite kindreds that segregate cystic fibrosis (CF) for linkage between CF and the polymorphic DNA markers pJ3.11 and 7C22 located on chromosome 7. These inbred pedigrees consist of more than 300 members including 30 affected individuals. In these families, linkage between the CF locus and the chromosome 21 marker D21S5 and between CF and the marker at the me...
متن کاملCystic fibrosis--a genetic dilemma.
Cystic fibrosis is a common genetic disease that usually presents in early childhood as a devastating disease affecting pulmonary function and at times gastrointestinal functioning and nutritional status. Variant forms of this disease have been described, which may have a delayed age of onset or a milder clinical course. Numerous genetic mutations have been described in cystic fibrosis. There a...
متن کاملIsolation and Genetic Fingerprinting of Pseudomonas aeruginosa from Iranian Patients with Cystic Fibrosis Using RAPD-PCR
Sixty four Iranian patients with cystic fibrosis (CF) were studied for colonization with Pseudomonasaeruginosa. The patient’s age ranged between 2 months to 18 years old. Twenty one patients werecolonized, 15 with non-mucoid and 6 with mucoid strains of P. aeruginosa. The colonization rateincreased with age and the mucoid phenotype was only recovered from the older patients. A...
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ژورنال
عنوان ژورنال: Human Mutation
سال: 2009
ISSN: 1059-7794,1098-1004
DOI: 10.1002/humu.21062