By Philip M. Parker

In March 2001, the nationwide Institutes of overall healthiness issued the subsequent caution: "The variety of sites providing health-related assets grows on a daily basis. Many websites supply useful details, whereas others can have details that's unreliable or misleading." in addition, end result of the quick elevate in Internet-based details, many hours might be wasted looking, making a choice on, and printing. for the reason that in simple terms the smallest fraction of data facing Harlequin ichthyosis is listed in se's, comparable to www.google.com or others, a non-systematic method of net study will be not just time eating, but additionally incomplete. This booklet was once created for doctors, scholars, and participants of most people who are looking to behavior clinical learn utilizing the main complex instruments on hand and spending the smallest amount of time doing so.

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A gene mutation is a permanent change in the DNA sequence that makes up a gene. Mutations range in size from a single DNA building block (DNA base) to a large segment of a chromosome. Gene mutations occur in two ways: they can be inherited from a parent or acquired during a person’s lifetime. Mutations that are passed from parent to child are called hereditary mutations or germline mutations (because they are present in the egg and sperm cells, which are also called germ cells). This type of mutation is present throughout a person’s life in virtually every cell in the body.

This situation is called mosaicism. Some genetic changes are very rare; others are common in the population. Genetic changes that occur in more than 1 percent of the population are called polymorphisms. They are common enough to be considered a normal variation in the DNA. gov/handbook. Help Me Understand Genetics 29 responsible for many of the normal differences between people such as eye color, hair color, and blood type. Although many polymorphisms have no negative effects on a person’s health, some of these variations may influence the risk of developing certain disorders.

These changes can affect many genes along the chromosome and alter the proteins made by those genes. Conditions caused by a change in the number or structure of chromosomes are known as chromosomal disorders. Human cells normally contain 23 pairs of chromosomes, for a total of 46 chromosomes in each cell. A change in the number of chromosomes leads to a chromosomal disorder. These changes can occur during the formation of reproductive cells (eggs and sperm) or in early fetal development. A gain or loss of chromosomes from the normal 46 is called aneuploidy.

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