Novel intronic polymorphisms in theRET proto-oncogene and their association with Hirschsprung disease
| العنوان: | Novel intronic polymorphisms in theRET proto-oncogene and their association with Hirschsprung disease |
|---|---|
| المؤلفون: | Andreas Ziegler, Hans K. Schackert, Guido Fitze, Dietmar Roesner, Matthias Schreiber, Eberhard Kuhlisch, Mandy Schierz |
| المصدر: | Human Mutation. 22:177-177 |
| بيانات النشر: | Hindawi Limited, 2003. |
| سنة النشر: | 2003 |
| مصطلحات موضوعية: | Male, endocrine system diseases, Multiple endocrine neoplasia type 2, Biology, RET proto-oncogene, Proto-Oncogene Mas, Germline mutation, Proto-Oncogene Proteins, Genotype, Genetics, medicine, Humans, Hirschsprung Disease, Allele frequency, Genetics (clinical), Polymorphism, Genetic, Proto-Oncogene Proteins c-ret, Haplotype, Receptor Protein-Tyrosine Kinases, medicine.disease, Phenotype, Introns, Female |
| الوصف: | Germline mutations of the RET proto-oncogene have been found in familial and sporadic forms of Hirschsprung disease (HSCR), but also in the autosomal dominantly inherited multiple endocrine neoplasia type 2 (MEN2) syndromes, which comprise the medullary thyroid carcinoma (MTC) as an obligatory feature. Besides mutations various polymorphisms of the RET proto-oncogene are associated with the HSCR. In this study, we have characterized seven intronic RET polymorphisms (IVS2+9G>A, IVS4+48A>G, IVS12+47C>T, IVS14-24G>A, IVS19+47T>C, IVS20+96C>T, 3'UTR+124A>G) and investigated these variants by DNA sequencing in populations of 76 HSCR patients and 40 sporadic MTC patients as well as in a control population. Variants of four of these seven polymorphisms have a strong association with the HSCR phenotype. In contrast, none of the investigated polymorphisms show a significant difference in the genotype distribution and the allele frequencies in patients with sporadic MTC when compared to controls. These findings support the hypothesis that specific RET haplotypes cause or modify the HSCR phenotype. |
| تدمد: | 1098-1004 1059-7794 |
| الوصول الحر: | https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6195e8d18cd447988d46f7d2cec45a6fTest https://doi.org/10.1002/humu.9161Test |
| حقوق: | OPEN |
| رقم الانضمام: | edsair.doi.dedup.....6195e8d18cd447988d46f7d2cec45a6f |
| قاعدة البيانات: | OpenAIRE |
| تدمد: | 10981004 10597794 |
|---|