Cystic fibrosis, sickle cell anemia, Tay-Sachs disease, phenylketonuria and color-blindness.
Since two copies of the mutant gene cause the disease phenotype, a person can survive with one functional copy, and as such they are termed carriers. Having one functioning copy is sufficient to prevent the disease condition. However, when there are genetic mutations in both copies, the disease will be present. The condition is caused by the inability of the body to transport chloride ions into and out of cells due to the mutated CFTR gene. Gradually this leads to a blockage of the lungs and pancreas The following is a list of genetic disorders and if known, type of mutation and the chromosome involved. The list of human genes includes genes not listed here, which also affect predisposition toward certain diseases.  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. Frameshift mutation (illustration). 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 Such types of mutations are also called as mosaicism. Here are some diseases which are caused by gene mutations:- 1)Cystic Fibrosis:- Cystic fibrosis is a single gene mutation. This disease is related with secretory glands of the body like sweat and mucus. This is a hereditary disease A gene mutation is a permanent alteration in the DNA sequence that makes up a gene, such that the sequence differs from what is found in most people. Mutations range in size; they can affect anywhere from a single DNA building block (base pair) to a large segment of a chromosome that includes multiple genes.  Many mutations have no effect at all. These are called silent mutations. But the mutations we hear about most often are the ones that cause disease. Some well-known inherited genetic disorders include cystic fibrosis, sickle cell anemia, Tay-Sachs disease, phenylketonuria and color-blindness, among many others. All of these disorders are caused by the mutation of a single gene In single-gene diseases, a mutation in just one of these genes is responsible for disease. Single-gene diseases run in families and can be dominant or recessive, and autosomal or sex-linked.  Sex-linked disorders. Genetic diseases or conditions caused by a mutation on the sex chromosomes. Patterns of inheritance tend to be gender-specific. Single gene disorders. Genetic diseases or conditions caused by a mutation in a single gene or DNA sequence. Also known as Mendelian, Classical and Monogenic disorders. They are usually passed from one generation to the next. Somatic cells. Non-sex cells (not ova or sperm). Somatic or sporadic mutation. The predicted course and outcome of a disease. Recessive disorders. Genetic disease or condition caused by a mutation on both genes in a pair (homozygous). The disease or condition only arises when both parents pass on a copy of the faulty gene.
http://www.brighthub.com/science/genetics/articles/40276.aspx https://en.wikipedia.org/wiki/List_of_genetic_disorders http://ghr.nlm.nih.gov/handbook/mutationsanddisorders/possiblemutations http://www.biotecharticles.com/Others-Article/Types-of-Gene-Mutations-Diseases-Caused-By-Gene-Mutation-80.html http://ghr.nlm.nih.gov/handbook/mutationsanddisorders/genemutation http://genetics.thetech.org/about-genetics/mutations-and-disease http://www.nature.com/scitable/topicpage/Rare-Genetic-Disorders-Learning-About-Genetic-Disease-979 http://www.discern-genetics.org/list_of_terms.php
genetic mutation diseases list