MadSci Network: Genetics

Re: Is it scientifically valid and/or useful to map the

Date: Tue Jul 18 17:14:00 2000
Posted By: Todd Wylie, Staff, Bioinformatics: Human Genome Project, Genome Sequencing Center: Washington University Medical School
Area of science: Genetics
ID: 963303047.Ge


It seems with all of the media attention surrounding the announcement of the completion of the rough draft of the Human Genome that many fears (reasonable and unreasonable) have been voiced. It is a good thing to increase public awareness of what the "map" of the human genome exactly is and how it can benefit humankind as a whole. I say humankind because I mean just that - the public effort's sequencing and mapping of the genome was for the species human. Humans (regardless of race) are so genetically similar that it is irrelevant who was sequenced first (a male donor was used not for political reasons but simply because an X and Y chromosome could be culled in this manner). Consider how closely related races are on a genetic level (99.9%). The completed human genome will be a blueprint for humankind - a template for the scientific and medical communities around the world. The public effort has at least 18 countries from all over the world contributing. These countries understand the importance of having the information and making it freely available all around the world.

Now, this is not to say that the (relatively) little sequence that differs between races is not important - it very much is. So much so that a consortium of public and private groups has been formed to sequence this DNA (called Single Nucleotide Polymorphisms or SNPs) of which the Human Genome Project is involved. This consortium also makes it's findings freely available to the world.

As stated on the SNP Consortium web page (http:// the reason to collect SNPs is as follows:

1) Even SNPs that do not themselves change protein expression and cause disease may be close on the chromosome to deleterious mutations. Because of this proximity, SNPs may be shared among groups of people with harmful but unknown mutations and serve as markers for them. Such markers help unearth the mutations and accelerate efforts to find therapeutic drugs.

2) Analyzing shifts in SNPs among different groups of people will help population geneticists to trace the evolution of the human race down through the millennia and to unravel the connections between widely dispersed ethnic groups and races.

The value of SNPs resides in their simplicity, frequency, and distribution throughout the human genome (the full set of genetic instructions, encoded in long strands of DNA). There are roughly 3 billion nucleotide pairs (the building blocks of DNA, also called base pairs ) in the human genome, 99.9 percent of which are the same for everyone. It is the remaining 0.1 percent that accounts for differences between people. A variation in a single base that is, a SNP is estimated to occur every 1000 bases. The SNP Consortium intends to identify up to 300,000 and map at least 150,000 SNPs that can then be used in association studies."

The SNP consortium is currently looking at libraries donated from multiple individuals from three major populations (Caucasian, Asian and African American). To find out more about SNPs or general Human Genome Project information - please take a look at:

HGP: http://


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