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Review highlights the role of single nucleotide polymorphisms in human disease, indicating the clinical value of DNA sequence detection as diagnostic markers.
Now that sequencing of the human genome is finished [1, 2], much information on the underlying genetic causes of many inherited and acquired diseases has been made available. Many genetic diseases have been found to be the result of a change of a single base pair. These alterations, termed single nucleotide polymorphisms (SNP), may cause changes in the amino acid sequence of important proteins. Some SNPs on the other hand may not cause a change in protein expression but may be close on the chromosome to other unknown deleterious mutations and can thus serve as genetic markers for these.
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Abdul M Gbaj (2018) studied this question.
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