Xq28
Xq28
Xq28 (pronounced "ex-queue-twenty-eight") is a region on the X chromosome, one of the 23 pairs of chromosomes in the human body.
Etymology
The term "Xq28" is derived from the standard cytogenetic nomenclature for describing particular regions of chromosomes. "X" refers to the X chromosome, "q" denotes the long arm of the chromosome, and "28" is the region on that arm.
Description
Xq28 is a highly gene-rich region of the X chromosome. It is notable for containing several genes of significant medical and biological interest, including the MECP2 gene, which is associated with Rett syndrome, and the F8 gene, which is associated with Hemophilia A.
Related Terms
- X chromosome: One of the two sex-determining chromosomes in many animal species, including humans. It is part of the XY sex-determination system and X0 sex-determination system.
- MECP2: A gene located on the X chromosome that provides instructions for making a protein called methyl CpG binding protein 2. Mutations in this gene are associated with Rett syndrome.
- Rett syndrome: A rare genetic disorder that affects brain development, resulting in severe mental and physical disability. It is caused by mutations in the MECP2 gene.
- F8: A gene located on the X chromosome that provides instructions for making a protein called factor VIII. Mutations in this gene are associated with Hemophilia A.
- Hemophilia A: A genetic disorder caused by missing or defective factor VIII, a clotting protein. It is associated with mutations in the F8 gene.
External links
- Medical encyclopedia article on Xq28
- Wikipedia's article - Xq28
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