Genetically Indistinguishable SNPs
Single nucleotide polymorphisms (SNPs) are single base pair differences between individuals. They make-up the bulk of data in the recently completed International HapMap Project.
While researchers frequently study the association of SNPs to disease, there is a caveat - studying only one is not enough because individuals may have neighboring SNPs that perfectly correspond to each other. In genetic terms, these SNPs are in linkage disequilibrium; knowing one SNP genotype predicts the other SNP genotype.
Dr. Lon Cardon and colleages studied chromosome 20 and found that about 50% of SNPs had “genetically indistinguishable” SNP partners or giSNPs.
“Research in human genetic variation is rapidly moving towards realizing our aims of improving diagnosis of common diseases such as diabetes and heart disease,” says Cardon, “but the genome is tricky; it won’t reveal its secrets easily. The real disease-causing culprits can have many silent partners. We need to know the relationships of all these partners to focus on real disease mutations and to minimize attention on the innocent gene variants that colour the humanity of life.“
Medical News Today, November 2, 2005
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POSTED IN: General Genetics and Health
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