Abstract |
We have used screening with the polymerase chain reaction and chemical mismatch detection of amplified cDNA to detect and characterize deletions and point mutations in six Hunter Syndrome patients. A high degree of mutational heterogeneity was observed. The first patient is completely deleted for the gene coding for alpha-L- iduronate sulfate sulfatase, while the second has a point mutation that creates a stop codon. The third patient shows a point mutation that creates a novel splice site that is preferentially utilized and results in partial loss of one exon in the RNA. Patients 4, 5, and 6 have point mutations resulting in single amino acid substitutions. Four of the six single-base changes observed in this study were examples of transitions of the highly mutable dinucleotide CpG to TpG. This study has demonstrated a procedure capable of detecting all types of mutation that affect the function of the IDS protein and should enable direct carrier and prenatal diagnosis for Hunter syndrome families.
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Authors | R H Flomen, P M Green, D R Bentley, F Giannelli, E P Green |
Journal | Genomics
(Genomics)
Vol. 13
Issue 3
Pg. 543-50
(Jul 1992)
ISSN: 0888-7543 [Print] United States |
PMID | 1639384
(Publication Type: Journal Article, Research Support, Non-U.S. Gov't)
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Chemical References |
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Topics |
- Amino Acid Sequence
- Base Sequence
- Chromosome Deletion
- DNA
(genetics)
- DNA Mutational Analysis
- Humans
- Iduronate Sulfatase
(genetics)
- Molecular Sequence Data
- Mucopolysaccharidosis II
(diagnosis, enzymology, genetics)
- Polymerase Chain Reaction
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