Medizinische Universität Graz - Research portal
Selected Publication:
Solari, V; Ennis, S; Yoneda, A; Wong, L; Messineo, A; Höllwarth, ME; Green, A; Puri, P.
Mutation analysis of the RET gene in total intestinal aganglionosis by wave DNA fragment analysis system.
J PEDIAT SURG 2003 38: 497-501.
Doi: 10.1053/jpsu.2003.50087
Web of Science
PubMed
FullText
FullText_MUG
- Co-authors Med Uni Graz
- Höllwarth Michael
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- Abstract:
- BACKGROUND/PURPOSE: Total intestinal aganglionosis (TIA) extending from the duodenum to the rectum is the most rare form of Hirschprung's disease (HSCR) and usually is fatal. RET is the major gene associated with HSCR, and germline mutations of this gene account for up 50% of familial and up to 15 to 20% of sporadic cases in HSCR. The aim of this study was to investigate DNA variants in the RET gene in TIA patients using the WAVE DNA Fragment Analysis System. METHODS: Genomic DNA was extracted from whole blood samples from 6 patients with TIA. Polymerase chain reaction (PCR) amplification of the 21 exons of RET was performed using published oligonucleotide primers. Heteroduplexes were followed by the WAVE DNA Fragment Analysis System with the DNASep cartridge. RESULTS: WAVE system technology detected 16 variants in the RET gene in the 6 patients with TIA. Three patients had a significant mutation in exon 8, 11, and 15, respectively. Thirteen RET polymorphic variants also were detected in the 6 patients, with L746L variant in exon 13 occurring in 4 patients. CONCLUSIONS: WAVE system technology is an efficient method for the detection of DNA sequence variants. Our findings suggest that not only RET mutations but also RET polymorphic variants may contribute to the occurrence of TIA.
- Find related publications in this database (using NLM MeSH Indexing)
- Amino Acid Substitution -
- Chromatography, High Pressure Liquid -
- Codon, Nonsense -
- DNA Mutational Analysis -
- Exons - genetics
- Female - genetics
- Heteroduplex Analysis - genetics
- Hirschsprung Disease - genetics
- Humans - genetics
- Infant, Newborn - genetics
- Introns - genetics
- Male - genetics
- Mutation, Missense - genetics
- Oncogene Proteins - genetics
- Polymerase Chain Reaction - genetics
- Polymorphism, Genetic - genetics
- Proto-Oncogene Proteins c-ret - genetics
- Receptor Protein-Tyrosine Kinases - genetics
- Find related publications in this database (Keywords)
- total intestinal aganglionosis
- RET protooncogene
- WAVE DNA Fragment Analysis System