Sickle cell disease is caused by a mutation on chromosome 11, specifically in the HBB gene that codes for the beta-globin protein. This mutation leads to the production of abnormal hemoglobin, resulting in the characteristic sickle-shaped red blood cells.
The gene codes for a protein called huntingtin found on the short arm of chromosome 4.
The gene on chromosome 7 produces a protein called cystic fibrosis trans-membrane regulator. Mutation in the DNA level of chromosome 7 leads to the absence of this protein which leads to cystic fibrosis. Cystic fibrosis is a recessive disease.
Rubinstein-Taybi syndrome is caused by a non-functional copy of the BREP binding protein gene (either by mutation or deletion) on chromosome 16.
90% of early-onset familial Alzheimer's disease cases are caused by mutations in the Presenilin-1 gene on chromosome 14, the Presenilin-2 gene on chromosome 1, and the amyloid precursor protein (APP) gene on chromosome 21. Mutations in these genes disrupt the processing of amyloid precursor protein, leading to the accumulation of amyloid-beta plaques in the brain, a hallmark of Alzheimer's disease.
no it is not
Most cases of Alexander disease are genetic, caused by a dominant mutation (change) in the glial fibrillary acidic protein (GFAP) gene on chromosome 17.
No, the traits for Huntington's disease are not carried on more than one chromosome. The condition is caused by a mutation in the HTT gene, which is located on chromosome 4. This genetic mutation leads to the production of an abnormal version of the huntingtin protein, ultimately causing the symptoms associated with the disease.
Huntington's disease is caused by a genetic mutation, specifically an expansion of CAG repeats in the HTT gene on chromosome 4. This mutation leads to the production of an abnormal protein that causes neurodegeneration. It is not due to a deletion or addition of a whole gene or chromosome, but rather an alteration within a specific gene.
Huntington's disease is a genetic disorder caused by a mutation in the HTT gene located on chromosome 4, not on the X or Y chromosomes. This mutation leads to the production of a faulty form of the protein huntingtin, which causes damage to nerve cells in the brain.
The process of identifying the protein that causes a disease is called "protein biomarker discovery" or "disease-associated protein identification." This involves various techniques, including genomics, proteomics, and bioinformatics, to analyze the proteins expressed in affected tissues or cells. By pinpointing specific proteins linked to a disease, researchers can better understand its mechanisms and potentially develop targeted therapies.
The DNA sequence of an entire chromosome affected by a mutation would have specific changes in the sequence of nucleotide bases. These changes can vary in size and location, leading to alterations in the genetic information carried by that chromosome, which can impact gene expression and protein production. This alteration can result in genetic disorders or diseases.