Characteristics Of Cystic Fibrosis ( Cf ) Essay

Characteristics Of Cystic Fibrosis ( Cf ) Essay

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Cystic fibrosis (CF) is an autosomal recessive disorder that affects 70,000 individuals worldwide1. Affected individuals may have chronic pulmonary disease, pancreatic insufficiency, excess sweat electrolyte content, and sterility in males and decreased fertility in females2. The disease is inherited in an autosomal recessive pattern. The mode of inheritance and the analysis of first cousin marriages may suggest that the disease is caused by defects in a single gene. Linkage analysis using restriction fragment length polymorphisms (RFLPs) seemed possible with polymorphic DNA probes and families with two or more affected children. One of the loci that suggested linkage to the disease was PON locus. However, the locus does not lead directly to chromosome localization.
This study was aimed at identifying the polymorphic marker that was linked to Cystic Fibrosis. Determining the linkage relationship between the loci depends on several factors: (1) the number of probes tested; (2) the degree of polymorphism; and (3) the number and structure of families available for study. To investigate the matter, the researchers isolated more than 200 random RFLP markers. The markers used have a polymorphism information content (PIC) of at least 0.3. They found that one of the markers used, D0CRI-917, was linked to the CF locus. The marker was isolated from partial digestion using the recombinant phage Lam4-917. The phage contained 18kb long of human DNA and does not contain repetitive sequences. A restriction map of Lam4-917 was also constructed. The human DNA marker was digested using the enzymes HindIII and HincII.
The map showed that the HindIII-digested DNA and probed with Lam4-917 had fragments of 6.3 kb (identified as A1) or 5.3 plus 1.0 kb...


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...scrimination by primer length. The polymorphism repeat was studied using PCR amplification.
The study revealed that the frequency of the mutation was lower in the Russian populations as compared to the Northern Europe and North America. This suggested for a more elaborate and improved DNA methods and CF diagnostics in search for other common CF mutations and for the informative polymorphic markers linked to the CF alleles. Furthermore, the study demonstrated that there was absolute linkage disequilibrium between the common mutation (ΔF-508) and (GATT)6 allele. There was also increased frequency of the linkage of other CF mutations with this polymorphic allele. Thus, the researchers found it important to note that the GATT polymorphism might seem to be a valuable diagnostic marker not only for the ΔF-508 mutation but as well as for other mutations in the CFTR gene.

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