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
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
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
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
References
External Links
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Contributors: Prab R. Tumpati, MD