Characterization of a deletion at Xq27-q28 associated with unbalanced inactivation of the nonmutant X chromosome.
Copyright policy )Characterization of a deletion at Xq27-q28 associated with unbalanced inactivation of the nonmutant X chromosome.
We report the results of studies on the characterization of the mutation associated with marked unbalanced expression of the mutant X chromosome in a karyotypically normal girl with Hunter disease (mucopolysaccharidosis type II). Southern analysis of DNA extracted from somatic cell hybrids containing only the mutant X chromosome showed deletion of the Xq27.3-q28 loci: DXS297 (VK23AC), DXS293 (VK16), FRAXA (pfxa3), DXS296 (VK21A), and the 3' end of the iduronatesulfatase (IDS) gene. The flanking loci--DXS52 (St14-1), DXS304 (U6.2), and DXS369 (RN1)--were intact. On the basis of these results, we concluded that the mutation was a simple deletion extending a maximum of 3-5 cM to the centromeric side of the IDS gene. Both Southern analysis of DNA from somatic cell hybrids, using short segments of IDS cDNA, and PCR of reverse-transcribed RNA from cultured skin fibroblasts indicated that the telomeric terminus of the deletion was localized to a region near the middle of the coding sequences of the gene.
- Hospital for Sick Children Canada
- University of Toronto Canada
X Chromosome, Base Sequence, Transcription, Genetic, Molecular Sequence Data, Oligonucleotides, DNA, Iduronate Sulfatase, Fibroblasts, Polymerase Chain Reaction, Cell Line, Blotting, Southern, Autoradiography, Humans, Female, RNA, Messenger, Chromosome Deletion, Mucopolysaccharidosis II
X Chromosome, Base Sequence, Transcription, Genetic, Molecular Sequence Data, Oligonucleotides, DNA, Iduronate Sulfatase, Fibroblasts, Polymerase Chain Reaction, Cell Line, Blotting, Southern, Autoradiography, Humans, Female, RNA, Messenger, Chromosome Deletion, Mucopolysaccharidosis II
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