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BME103:T930 Group 16 l2: Difference between revisions
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[[Image:Cystic Fibrosis.jpg]]<br> | [[Image:Cystic Fibrosis.jpg]]<br> | ||
Figure A shows large deletions of Exons 17a and 17 b in cystic fibrosis alleles, which have been estimated to occur in 1–2% pathogenic alleles. The occurrence of this deletion could be much higher in classical cystic fibrosis patients with one mutation detectable by the routine screening/sequencing work-up. A rearranged region is inserted where the deletion occurs, and is flanked by a pair of perfectly inverted repeats of 32 bp. Figure B shows the difference between a wild-type allele and a mutated allele. The wild-type allele and mutated allele have variable regions flanked by the inverted 32 bp repeats, (blue arrows) whose start and end are denoted by vertical dashed lines. The nucleotide sequence alignment of the variable regions are shown to be highly homologous. In the mutated allele, Exons 17a and 17b have been deleted and a 30 bp insertion takes its place. | |||
*http://www.sciencedirect.com/science/article/pii/S1569199312001737 | *http://www.sciencedirect.com/science/article/pii/S1569199312001737 | ||
*http://www.bmb.msu.edu/faculty/hong.html | *http://www.bmb.msu.edu/faculty/hong.html | ||
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