Summary
The fragile X syndrome is a common familial form of mental retardation and is associated with a rare fragile site at Xq27.3 (FRAXA). This disorder has recently been reported to correlate with length variations of restriction genomic DNA fragments which may due to the amplification of (CCG)n trinucleotide repeats located at the FRAXA locus. We described here a rapid preparation method of diagnostic DNA probes for the fragile X syndrome by direct enzymatic amplification of human chromosomal DNA. ThePstI-assay, which is Southern blot analysis of DNA samples probed by PCR products, was shown to be sensitive method for diagnostic purposes to detect the size variations specific in the fragile X syndrome.
Similar content being viewed by others
Article PDF
References
Arinami T, Kondo I, Hamaguchi H, Tamura K, Hirano T (1987): A fragile X female with Down syndrome. Hum Genet77: 92–94
Hori T, Takahashi E, Tsuji H, Tsuji S, Murata M (1988): Fragile X expression in thymidine-prototrophic and auxotrophic human-mouse somatic cell hybrids under low and high thymidylate stress conditions. Cytogenet Cell Genet47: 177–180
Kremer EJ, Pritchard M, Lynch M, Yu S, Holman K, Baker E, Warren ST, Schlessinger D, Sutherland GR, Richards RI (1991): Mapping of DNA instability at the fragile X to a trinucleotide repeat sequence p(CCG)n. Science252: 1711–1714
Nakahori Y, Knight SJ, Holland J, Schwartz C, Roche A, Tarleton J, Wong S, Flint TJ, Froster IU, Bentley D, Davies KE, Hirst MC (1991): Molecular heterogeneity of the fragile X syndrome. Nucleic Acid Res19: 4355–4359
Pieretti M, Zhang F, Fu Y, Warren ST, Oostra BA, Caskey CT, Nelson DL (1991): Absence of expression of the FMR-1 gene in fragile X syndrome. Cell66: 817–822
Sutherland GR, Hecht F (1985): Fragile sites on human chromosomes. Oxford University Press, New York, Oxford
Verkerk A JMH, Pieretti M, Sutcliffe JS, Fu Y, Kuhl DPA, Pizzuti A, Reiner O, Richards S, Victoria MF, Zhang F, Eussen BE, van Ommen GB, Blonden LAJ, Riggins GJ, Chastain JL, Kunst CB, Galjaard H, Caskey CT, Nelson DL, Oostra BA, Warren ST (1991): Identification of a gene (FMR-1) containing a CGG repeat coincident with a breakpoint cluster region exhibiting length variation in fragile X syndrome. Cell65: 905–914
Yamauchi M, Yamauchi N, Meuth M (1990): Molecular cloning of the human CTP synthetase gene by functional complementation with purified human metaphase chromosomes. EMBO J9: 2095–2099
Yamauchi M, Yamauchi N, Phear G, Spurr NK, Martinsson T, Weith A, Meuth M (1991): Genomic organization and chromosomal localization of the human CTP synthetase gene. Genomics11: 1088–1096
Yu S, Pritchard M, Kremer E, Lynch M, Nancarrow J, Baker E, Holman K, Mulley JC, Warren ST, Schlessinger D, Sutherland GR, Richards RI (1991): Fragile X genotype characterized by an unstable region of DNA. Science252: 1179–1181
Author information
Authors and Affiliations
Rights and permissions
About this article
Cite this article
Yamauchi, M., Seki, N. & Hori, Ta. Rapid preparation of diagnostic probes for the fragile X syndrome by direct PCR amplification of human chromosomal DNA. Jap J Human Genet 37, 195–203 (1992). https://doi.org/10.1007/BF01900713
Received:
Accepted:
Issue Date:
DOI: https://doi.org/10.1007/BF01900713