AI Article Synopsis
- Fragile X syndrome is the leading hereditary cause of mental retardation, but studying its genetics is challenging due to the absence of nearby DNA markers.
- Two specific somatic cell hybrids containing a human X chromosome near the fragile X locus have been analyzed.
- A newly identified DNA marker (DXS296) is the closest marker to the fragile X locus found to date, and it helps establish the location of the Hunter syndrome gene further down the X chromosome.
Article Abstract
The fragile X syndrome is the most common cause of familial mental retardation. Genetic counseling and gene isolation are hampered by a lack of DNA markers close to the disease locus. Two somatic cell hybrids that each contain a human X chromosome with a breakpoint close to the fragile X locus have been characterized. A new DNA marker (DXS296) lies between the chromosome breakpoints and is the closest marker to the fragile X locus yet reported. The Hunter syndrome gene, which causes iduronate sulfatase deficiency, is located at the X chromosome breakpoint that is distal to this new marker, thus localizing the Hunter gene distal to the fragile X locus.
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| http://dx.doi.org/10.1126/science.2573953 | DOI Listing |
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