| 摘要 |
<p>The present invention provides a human DNA sequence for the FMR2 gene, which is associated with FRAXE-associated mental retardation, and provides a source for suitable probes for diagnosis and source of suitable sequences for developing antibodies to the protein (FMR2P) as the basis for development of an immunocytochemical test for the presence of FMR2P protein, and also DNA sequences useful for deriving the protein sequence (FMR2P) for possible therapy. The isolation and characterization of the FMR2 gene thus permits an improvement in diagnostic techniques, as well as the possiblity for genetic manipulation to overcome FRAXE-associated mental retardation. In one aspect, the invention is directed to an isolated and purified DNA sequence of at least 9.5 kb, which encodes a putative 1301 amino acid protein. In particular, the invention relates to the FMR2-coding DNA sequence as shown in the figure, from position 394 in the DNA sequence and position 1 in the protein sequence (ATG codon) to position 4296 in the DNA sequence and position 1301 in the protein sequence (TTG codon), and functionally equivalent DNA sequences. The invention also relates to variants of these sequences, having deletions, insertions or base substitutions which affect transcription and/or translation of the complete FMR2 gene. In still another aspect, the invention is directed to DNA probes which are hybridisable with such sequences to thereby detect abnormalities such as deletions, insertions and base substitutions (other than the CCG expansion).</p> |
