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Gentic Disorders / Diseases
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http://www.nlm.nih.gov/medlineplus/geneticdisorders.html#cat5
http://www.medicinenet.com/genetic_disease/page3.htm
http://ghr.nlm.nih.gov/
Genetic Disorders / Diseases
Summary
Genes
-Building blocks of heredity
-Passed from parent to child
-Hold DNA, the instructions for making proteins
-These proteins help to build structures, break down toxins, move molecules, etc.
Mutation
-Any change or mutation caused to a gene or multiple genes
-Changes the instructions for creating a protein or proteins
-Can result in proteins not functioning or missing completely
-Can ultimately result in a Genetic Disorder
Genetic Testing
Types of Testing
How it works
-Identifies changes in chromosomes, genes, or proteins
-More than 1,000 genetic tests are currently in use
-Results of a genetic test can confirm or rule out a suspected genetic condition
-Molecular genetic: tests study single genes or short lengths of DNA to identify variations or mutations that lead to a genetic disorder
-Chromosomal genetic: tests analyze whole chromosomes or long lengths of DNA to see if there are large genetic changes, such as an extra copy of a chromosome
-Biochemical genetic: tests study the amount or activity level of proteins; abnormalities in either can indicate changes to the DNA
Inheritance
Mitochondrial inheritance
-Caused by mutations in the non-nuclear DNA of mitochondria
-Mitochondria are involved in cellular respiration and found in the cytoplasm of plant and animal cells
-Mitochondrial DNA is always inherited from the female parent
-These include Leber's hereditary optic atrophy, and MELAS
Chromosome Abnormalities
-Chromosomes are structures made up of DNA and proteins that are located in the nucleus of the cell
-Abnormalities in structure or number can result in a number of diseases
-These include Down Syndrome, and Turner Syndrome
-Diseases may also occur because of chromosomal translocation in which portions of two chromosomes are exchanged
Multifactorial Inheritance
-Caused by a combination of environmental factors and mutations in multiple genes
-For example, genes that influence breast cancer have been found on chromosome 6, 11, 13, 14, 15, 17, and 22
-Also know as Complex of Polgenic Inheritance
-These include Alzheimer's disease, Arthritis, and Diabetes
-Associated with heritable traits such as fingerprint patterns, height, eye color, and skin color
Single Gene Inheritance
-Caused by changes or mutations that occur in the DNA sequence of a single gene
-More than 6000 know single gene disorders
-Occur in about 1 of every 200 births
-Also know as Monogenetic Disorders
-These include Cystic Fibrosis, Sickle Cell Anemia, Marfan Syndrome, and Huntington's Disease