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      History of the Pancreas: Mysteries of a Hidden Organ 

      Congenital Anomalies

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      Springer US

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          Identification of the cystic fibrosis gene: chromosome walking and jumping

          An understanding of the basic defect in the inherited disorder cystic fibrosis requires cloning of the cystic fibrosis gene and definition of its protein product. In the absence of direct functional information, chromosomal map position is a guide for locating the gene. Chromosome walking and jumping and complementary DNA hybridization were used to isolate DNA sequences, encompassing more than 500,000 base pairs, from the cystic fibrosis region on the long arm of human chromosome 7. Several transcribed sequences and conserved segments were identified in this cloned region. One of these corresponds to the cystic fibrosis gene and spans approximately 250,000 base pairs of genomic DNA.
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            CYSTIC FIBROSIS OF THE PANCREAS AND ITS RELATION TO CELIAC DISEASE

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              Cystic fibrosis locus defined by a genetically linked polymorphic DNA marker.

              A polymorphic DNA marker has been found genetically linked, in a set of 39 human families, to an autosomal recessive gene that causes cystic fibrosis (CF), a disease affecting one in 2000 Caucasian children. The DNA marker (called D0CRI-917) is also linked to the PON locus, which by independent evidence is linked to the CF locus. The best estimates of the genetic distances are 5 centimorgans between the DNA marker and PON and 15 centimorgans between the DNA marker and the CF locus, meaning that the location of the disease gene has been narrowed to about 1 percent of the human genome (about 30 million base pairs). Although the data are consistent with the interpretation that a single locus causes cystic fibrosis, the possibility of genetic heterogeneity remains. The discovery of a linked DNA polymorphism is the first step in molecular analysis of the CF gene and its causative role in the disease.
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                Author and book information

                Book Chapter
                2002
                : 399-419
                10.1007/978-1-4615-0555-6_8
                f581448b-3890-4fb8-842f-e5357fd5c2e3
                History

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