http://www.nature.com.proxy.lib.sfu.ca/nature/journal/v447/n7141/full/447161a.html
In its broadest sense, structural variation can be defined as all genomic changes that are not single base-pair substitutions6. Such variation includes insertions, deletions, inversions, duplications and translocations of DNA sequences, and encompasses copy-number differences (also known as copy-number variants, CNVs). During the past two years, several genome-wide surveys have described large-scale (>100 kb), intermediate-scale (500 bp–100 kb) and fine-scale (1–500 bp) structural variations in the human genome.
And these can have phenotypic effects that may lead to diseases due to improper dosage production like ...
colour blindness, rhesus blood group sensitivity, classical haemophilia and forms of beta- and alpha-thalassaemia
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