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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.

Type

Journal article

Journal

Science

Publication Date

08/12/1989

Volume

246

Pages

1298 - 1300

Keywords

Animals, Chromosome Mapping, Female, Fragile X Syndrome, Genetic Counseling, Genetic Linkage, Genetic Markers, Genomic Library, Humans, Hybrid Cells, Likelihood Functions, Mice, Mucopolysaccharidosis II, Mutation, Nucleic Acid Hybridization, Polymorphism, Restriction Fragment Length, Sex Chromosome Aberrations, Translocation, Genetic