By Philip M. Parker
In March 2001, the nationwide Institutes of wellbeing and fitness issued the subsequent caution: "The variety of sites providing health-related assets grows on a daily basis. Many websites supply beneficial info, whereas others can have details that's unreliable or misleading." in addition, due to the quick raise in Internet-based details, many hours may be wasted looking, identifying, and printing. considering that in basic terms the smallest fraction of knowledge facing Crouzon syndrome is listed in se's, akin to www.google.com or others, a non-systematic method of web examine could be not just time eating, but additionally incomplete. This e-book was once created for doctors, scholars, and participants of most of the people who are looking to behavior clinical examine utilizing the main complicated instruments to be had and spending the smallest amount of time doing so.
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Additional info for Crouzon Syndrome - A Bibliography and Dictionary for Physicians, Patients, and Genome Researchers
Sample text
Frameshift mutation: This type of mutation occurs when the addition or loss of DNA bases changes a gene’s reading frame. A reading frame consists of groups of 3 bases that each code for one amino acid. A frameshift mutation shifts the grouping of these bases and changes the code for amino acids. The resulting protein is usually nonfunctional. Insertions, deletions, and duplications can all be frameshift mutations. • Repeat expansion: Nucleotide repeats are short DNA sequences that are repeated a number of times in a row.
40 • Crouzon Syndrome Additional information about DNA repair is available from the NCBI Science Primer. html. What Kinds of Gene Mutations Are Possible? The DNA sequence of a gene can be altered in a number of ways. Gene mutations have varying effects on health, depending on where they occur and whether they alter the function of essential proteins. The types of mutations include: • Missense mutation: This type of mutation is a change in one DNA base pair that results in the substitution of one amino acid for another in the protein made by a gene.
The first number or letter used to describe a gene’s location represents the chromosome. Chromosomes 1 through 22 (the autosomes) are designated by their chromosome number. The sex chromosomes are designated by X or Y. Help Me Understand Genetics 33 • The arm of the chromosome. Each chromosome is divided into two sections (arms) based on the location of a narrowing (constriction) called the centromere. By convention, the shorter arm is called p, and the longer arm is called q. The chromosome arm is the second part of the gene’s address.