Xq28
Xq28 is a region on the X chromosome that has been the subject of extensive research due to its potential association with various genetic traits and conditions. The designation "Xq28" refers to a specific location on the long arm (q) of the X chromosome, at position 28.
Genetic Significance[edit | edit source]
The Xq28 region is notable for containing several important genes that play crucial roles in human development and health. Some of the key genes located in this region include:
- MECP2 - This gene is associated with Rett syndrome, a severe neurodevelopmental disorder that primarily affects females.
- G6PD - The gene for glucose-6-phosphate dehydrogenase deficiency, which can lead to hemolytic anemia.
- L1CAM - Mutations in this gene are linked to L1 syndrome, which includes a spectrum of conditions such as X-linked hydrocephalus and MASA syndrome.
Research and Controversies[edit | edit source]
The Xq28 region has also been studied in the context of sexual orientation. Some researchers have suggested that there may be a genetic component to sexual orientation linked to this region, although this remains a topic of debate and ongoing research.
Associated Conditions[edit | edit source]
Several medical conditions are associated with mutations or variations in the genes located in the Xq28 region. These include:
- Rett syndrome
- Glucose-6-phosphate dehydrogenase deficiency
- L1 syndrome
- X-linked hydrocephalus
- MASA syndrome
See Also[edit | edit source]
References[edit | edit source]
External Links[edit | edit source]
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Contributors: Prab R. Tumpati, MD