期刊
JOURNAL OF MOLECULAR DIAGNOSTICS
卷 12, 期 2, 页码 213-219出版社
ELSEVIER SCIENCE INC
DOI: 10.2353/jmoldx.2010.090080
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- ARUP Institute for Clinical and Experimental Pathology
With the recent discovery of mutations in the STAT3 gene in the majority of patients with classic Hyper-IgE syndrome, it is now possible to make a molecular diagnosis in most of these cases. We have developed a PCR-based high-resolution DNA-melting assay to scan selected exons of the STAT3 gene for mutations responsible for Hyper-IgE syndrome, which is then followed by targeted sequencing. We scanned for mutations in 10 unrelated pedigrees, which include 16 patients with classic Hyper-NE syndrome. These pedigrees include both sporadic and familial cases and their relatives, and we have found STAT3 mutations in all affected individuals. High-resolution melting analysis allows a single day turn-around time for mutation scanning and targeted sequencing of the STAT3 gene, which will greatly facilitate the rapid diagnosis of the Hyper-IgE syndrome, allowing prompt and appropriate therapy, prophylaxis, improved clinical outcome, and accurate genetic counseling. (J Mol Diagn 2010, 12:213-219; DOI: 10.2353/jmoldx.2010.090080)
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