Showing posts with label mutation. Show all posts
Showing posts with label mutation. Show all posts

Wednesday, July 22, 2009

Definition of Amyotrophic lateral sclerosis 6


Amyotrophic lateral sclerosis 6: ALS6. A form of amyotrophic lateral sclerosis (ALS) inherited in an autosomal dominant manner due to mutation in a gene on chromosome 16q12.

Definition of Amyotrophic lateral sclerosis 5


Amyotrophic lateral sclerosis 5: ALS5. A form of amyotrophic lateral sclerosis (ALS) inherited in an autosomal recessive manner due to mutation in a gene on chromosome 15q15.1-q21.1.

Definition of Amyotrophic lateral sclerosis 2


Amyotrophic lateral sclerosis 2: ALS2. A juvenile-onset form of amyotrophic lateral sclerosis (ALS) inherited in an autosomal recessive manner and caused by mutation in the gene encoding alsin on chromosome 2q33.





Definition of Amyotrophic lateral sclerosis 1


Amyotrophic lateral sclerosis 1: ALS1. A form of amyotrophic lateral sclerosis (ALS) inherited in an autosomal dominant manner and caused by mutation in the superoxide dismutase-1 gene (SOD1) on chromosome 21q22.1. About 15 to 20% of familial ALS is type 1 (ALS1). Sporadic cases of ALS are sometimes due to new mutation in the SOD1 gene.

Monday, June 29, 2009

Definition of Acquired mutation


Acquired mutation: A mutation (a genetic change) acquired by a somatic cell after conception. Acquired mutations occur in somatic cells, not germ cells, and so cannot be transmitted to the children. However, acquired mutations are transmitted to all cells descended from the mutant cell, giving rise to a clone (colony) of cells marked by the mutation. Some acquired mutations are involved in the development of cancer. Also known as an acquired genetic mutation, somatic mutation, or somatic cell mutation.