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Tissue differences in fragile X mosaics: Mosaicism in blood cells may differ greatly from skin by Dobkin, Carl S.; Nolin, Sarah L.; Cohen, Ira; Sudhalter, Vicki; Bialer, Martin G.; Ding, Xiao-Hua; Jenkins, E. C.; Zhong, Nan; Brown, W. Ted is a Biochemistry, Genetics and Molecular Biology article available to read on EtoBox.
What is Tissue differences in fragile X mosaics: Mosaicism in blood cells may differ greatly from skin about?
The fragile X mutation is diagnosed from the structure of the FMRl gene in blood cell DNA. An estimated 12 to 41% of affected males are mosaics who carry both a "full mutation" allele from which there is no gene expression and a "premutation" allele which has normal gene expression. We compared the DNA in blood cells and skin fibroblasts from four mosaic fragile X males to see if there was a difference in the relative amounts of premutation and full mutation alleles within the tissues of these individuals. T w o of these males showed striking differences in the ratio of premutation to full mutation in different tissues while the other two showed only slight differences. These observations conform with the widely accepted hypothesis that the fragile X CGG repeat is unstable in somatic tissue during early embryogenesis. Accordingly, the mosaicism in brain and skin, which are both ectodermal in origin, may be similar to each other but different from blood which is not ectodermal in origin. Thus, the ratio of full mutation to premutation allele in skin fibroblasts might be a better indicator of psychological impairment than the ratio in blood cells. o 1996 Wiley-Liss, Inc.
Who reads Tissue differences in fragile X mosaics: Mosaicism in blood cells may differ greatly from skin?
It is typically read by researchers, students, and practitioners in Biochemistry, Genetics and Molecular Biology.
- Author
- Dobkin, Carl S.; Nolin, Sarah L.; Cohen, Ira; Sudhalter, Vicki; Bialer, Martin G.; Ding, Xiao-Hua; Jenkins, E. C.; Zhong, Nan; Brown, W. Ted
- Publisher
- John Wiley and Sons; Wiley (John Wiley & Sons); Wiley-Liss Inc; Wiley (ISSN 0148-7299)
- Published
- 1996
- Language
- EN
- Field
- Biochemistry, Genetics and Molecular Biology (Life Sciences)