Mild cystic fibrosis linked to chromosome 7q22 markers with an uncommon haplotype

Article Abstract:

One in 25 Northern Europeans and their descendants carry the trait for cystic fibrosis. This genetic disease is the most common autosomal (non-sex chromosomal) recessive disorder found in this population, and it has spurred much genetic research. Symptoms include respiratory disease and pancreatic irregularities. The disorder is characterized by chronic airway infections and malfunction of the pancreas with impaired growth and malabsorption. The rate of progression of this disease may vary; some individuals experience relatively mild symptoms. Using genetic linkage and DNA (deoxyribonucleic acid) analytical techniques, the gene for cystic fibrosis was found to be located in chromosome 7. Individuals from families with the cystic fibrosis trait were evaluated. A DNA linkage analysis was performed on these patients to see if the location of the gene for the mild type of cystic fibrosis was the same as for the more severe type. A comparison was also made between the chromosomal markers of the milder type with those found in previous studies. The result of an analysis of a family pedigree revealed three individuals with the milder form of the disease and without pancreatic insufficiency had parents with homozygous DD (gene pair with the same alleles). This supports the idea that there exists a specific cystic fibrosis allele (one of two or more forms of gene pairs that may exist at a single gene locus) for the milder type of cystic fibrosis. (Consumer Summary produced by Reliance Medical Information, Inc.)

Research, Genetic disorders

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CFTR expression and organ damage in cystic fibrosis

Article Abstract:

Understanding the roles that genetics, the properties of the affected organs, and cystic fibrosis transmembrane regulator (CFTR) play in the severity of cystic fibrosis may help guide future treatment of organ damage associated with this inherited disease. CFTR is a protein produced by the defective gene in patients with cystic fibrosis that alters the regulation of mucous secretions. Researchers proposed a theory that describes the important contributing factors resulting in the variations of organ damage in cystic fibrosis patients. The degree of defective gene expression and rates of CFTR secretion may lead to varying degrees of organ damage. Organs with smaller more complex ducts and those that secrete fluids high in protein may be more susceptible to organ damage in patients with cystic fibrosis.

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Increased rate of fractures and severe kyphosis: sequelae of living into adulthood with cystic fibrosis

Article Abstract:

Patients with cystic fibrosis have a higher rate of bone fractures, especially in the spine. Researchers measured bone density in 70 adults with advanced cystic fibrosis. Bone density was substantially lower in these patients than in the general population. Both men and women had twice the rate of fractures than healthy people. The rate of compression fractures of the spinal vertebrae was 100 times higher than in healthy people. These fractures caused severe deviations in posture.

Complications and side effects, Risk factors, Fractures (Injuries), Fractures, Kyphosis

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