- 期刊
A Study of Fragile x Chromosome Expression and p(CGG)n Amplification in FMR- 1 Gene in A Large Family
並列摘要
The fragile X syndrome is the most common cause of hereditary mental retardation. The gene, fragile X mental retardation -1(FMR-1), has been identified to be associated within this syndrome. Amplification mutations in CGG repeats in the 5' untranslated region (5' UTR) of the FMR-1 give rise to this phenotype. The purpose of this study was aimed to test the phenomenon of Sherman paradox and to checkthe relationship between the fra(X) expression and P(CGG)n expansion. Ina large fragile X family ,twenty three individuals were cytogenetically examined for fra(X) expression and molecular analysis of p(CGG)n amplification in FMR-1 were also performed. Of these individuals, eleven are normal, three individualso have only CGG amplification in FMR-1, and nine of them have both CGG amplification and fra(X) positive. We demonstrated that the DNA increased in CGG repeat has positive correlation with fra(X) expression, and anticipation phenomenon also seen in this large family.
並列關鍵字
fragile X syndrome ； FMR-1 ； CpG island ； CGG repeat ； normal transmitting male ； anticipation延伸閱讀
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