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NBS_2009_Introduction-to-Molecular
NBS_2009_Introduction-to-Molecular

... Mutations in CFTR may cause Cystic Fibrosis ~250,000 base pairs 1480 amino acids 27 exons >1600 known mutations ...
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Laboratory of Insect Genetics and Biosciences (IGB) Dept. Biology
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Renal transplant recipients

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... substituted with (or exchanged for) a different nucleotide that may result in an altered sequence of amino acid during translation. occurs when a DNA gene is damaged or changed in such a way as to alter the genetic message carried by that gene. is a type of mutation involving the loss of genetic mat ...
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Bisulfite sequencing



Bisulphite sequencing (also known as bisulfite sequencing) is the use of bisulphite treatment of DNA to determine its pattern of methylation. DNA methylation was the first discovered epigenetic mark, and remains the most studied. In animals it predominantly involves the addition of a methyl group to the carbon-5 position of cytosine residues of the dinucleotide CpG, and is implicated in repression of transcriptional activity.Treatment of DNA with bisulphite converts cytosine residues to uracil, but leaves 5-methylcytosine residues unaffected. Thus, bisulphite treatment introduces specific changes in the DNA sequence that depend on the methylation status of individual cytosine residues, yielding single- nucleotide resolution information about the methylation status of a segment of DNA. Various analyses can be performed on the altered sequence to retrieve this information. The objective of this analysis is therefore reduced to differentiating between single nucleotide polymorphisms (cytosines and thymidine) resulting from bisulphite conversion (Figure 1).
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