Expansion of an FMR1 Grey-Zone Allele to a Full Mutation in Two Generations
作者： Isabel Fernandez-Carvajal , Blanca Lopez Posadas , Ruiqin Pan , Christopher Raske , Paul J. Hagerman
DOI: 10.2353/JMOLDX.2009.080174
关键词: Fragile X syndrome 、 Trinucleotide repeat expansion 、 Minor allele frequency 、 Allele 、 Null allele 、 Biology 、 Genetics 、 Fixed allele 、 C957T 、 Allele frequency
摘要: Fragile X Syndrome is caused by the expansion of an unstable CGG-repeat tract in 5′-UTR FMR1 gene, which generally results transcriptional silencing and consequent absence protein. To date, smallest premutation allele reported to expand a full mutation single generation 59 CGG repeats. Here, we report single-generation (male with ∼538 CCG repeats) from mother who carrier 56 Furthermore, maternal grandfather was gray (or intermediate)-zone (45 54 52 Thus, this family, gray-zone expanded range two generations. Interestingly, AGG interruptions present grandfather's were absent mother's allele. These observations underscore need consider carriers alleles greater than 55 repeats as being at risk for transmission generation, those even smaller zone having grandchildren alleles.
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