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- W158359612 abstract "We have isolated the complete open reading frame (ORF) of the choroideremia (CHM) gene and elucidated its exon-intron structure. The ORF of the CHM gene is located on 15 exons and encodes a protein of 653 amino acids. Among 75 CHM patients investigated for large structural abnormalities, 15 (20%) showed deletions of one or more exons of the gene. The deletions vary in size from a few kb spanning one exon to more than 10 megabases encompassing a large part of Xq21. In addition, we have positioned the X-chromosomal breakpoint in a CHM female with an X;7 translocation between exons 3 and 4. Fine mapping of the deletions indicates that there is no clustering of deletion breakpoints. Moreover, only 2 deletions are located entirely within the CHM gene, indicating that most deletions can be detected by PCR amplification of exons 1 and 15. From within the CHM gene we identified two microsatellite markers, a (CA){sub n}- and a [(TA){sub 4-12}C]{sub n}-like repeat, which should be very valuable for CHM diagnostics in clear-cut CHM families. In patients in which the diagnosis of choroideremia is less obvious, mutation analysis can be performed by PCR-SSCP analysis and direct sequencing. The feasibility of thismore » approach was illustrated by the finding of 10 causative mutations in 12 Danish CHM families investigated. Interestingly, all CHM gene mutations detected thus far give rise to the introduction of a premature stop codon. Missense mutations thus far have not been found.« less" @default.
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- W158359612 date "1994-09-01" @default.
- W158359612 modified "2023-09-26" @default.
- W158359612 title "Genomic structure of the choroideremia (CHM) gene and mutation analysis in CHM patients" @default.
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