Skip to main content Accessibility help
×
Hostname: page-component-78c5997874-dh8gc Total loading time: 0 Render date: 2024-11-09T08:52:18.801Z Has data issue: false hasContentIssue false

1 - Identifying the genetic basis of disease

from PART I - Genomes

Published online by Cambridge University Press:  05 June 2012

Vineet Bafna
Affiliation:
University of California
Pavel Pevzner
Affiliation:
University of California, San Diego
Ron Shamir
Affiliation:
Tel-Aviv University
Get access

Summary

It is all in the DNA. Our genetic code, or genotype, influences much about us. Not only are physical attributes (appearance, height, weight, eye color, hair color, etc.) all fair game for genetics, but also possibly more important things such as our susceptibility to diseases, response to a certain drug, and so on. We refer to these “observable physico-chemical traits” as phenotypes. Note that “to influence” is not the same as “to determine” – other factors such as the environment one grows up in can play a role. The exact contribution of the genotype in determining a specific phenotype is a subject of much research. The best we can do today is to measure correlations between the two. Even this simpler problem has many challenges. But we are jumping ahead of ourselves. Let us review some biology.

Background

Why do we focus on DNA? Recall that our bodies have organs, each with a specific set of functions. The organs in turn are made up of tissues. Tissues are clusters of cells of a similar type that perform similar functions. Thus, it is useful to work with cells because they are simpler than organisms, yet encode enough complexity to function autonomously. Thus, we can extract cells into a Petri dish, and they can grow, divide, communicate, and so on. Indeed, the individual starts life as a single cell, and grows up to full complexity, while inheriting many of its parents' phenotypes.

Type
Chapter
Information
Publisher: Cambridge University Press
Print publication year: 2011

Access options

Get access to the full version of this content by using one of the access options below. (Log in options will check for institutional or personal access. Content may require purchase if you do not have access.)

Save book to Kindle

To save this book to your Kindle, first ensure [email protected] is added to your Approved Personal Document E-mail List under your Personal Document Settings on the Manage Your Content and Devices page of your Amazon account. Then enter the ‘name’ part of your Kindle email address below. Find out more about saving to your Kindle.

Note you can select to save to either the @free.kindle.com or @kindle.com variations. ‘@free.kindle.com’ emails are free but can only be saved to your device when it is connected to wi-fi. ‘@kindle.com’ emails can be delivered even when you are not connected to wi-fi, but note that service fees apply.

Find out more about the Kindle Personal Document Service.

Available formats
×

Save book to Dropbox

To save content items to your account, please confirm that you agree to abide by our usage policies. If this is the first time you use this feature, you will be asked to authorise Cambridge Core to connect with your account. Find out more about saving content to Dropbox.

Available formats
×

Save book to Google Drive

To save content items to your account, please confirm that you agree to abide by our usage policies. If this is the first time you use this feature, you will be asked to authorise Cambridge Core to connect with your account. Find out more about saving content to Google Drive.

Available formats
×