Clinical relationship between EDN-3 gene, EDNRB gene and Hirschsprung’s disease
| Autor: | Xiang-Long Duan, Xian-Sheng Zhang, Guo-Wei Li |
|---|---|
| Rok vydání: | 2003 |
| Předmět: |
congenital
hereditary and neonatal diseases and abnormalities China Restriction Mapping Mutant Biology medicine.disease_cause digestive system Polymerase Chain Reaction law.invention Exon Asian People Clinical Research law medicine Humans Hirschsprung Disease education Gene Hirschsprung's disease Polymorphism Single-Stranded Conformational Polymerase chain reaction DNA Primers Genetics Endothelin-3 Mutation education.field_of_study Base Sequence integumentary system Gastroenterology Single-strand conformation polymorphism General Medicine medicine.disease Receptor Endothelin B Molecular biology digestive system diseases Endothelin 3 |
| Zdroj: | World Journal of Gastroenterology. 9:2839 |
| ISSN: | 1007-9327 |
| DOI: | 10.3748/wjg.v9.i12.2839 |
| Popis: | AIM: To investigate the mutation of EDNRB gene and EDN-3 gene in sporadic Hirschsprung’s disease (HD) in Chinese population. METHODS: Genomic DNA was extracted from bowel tissues of 34 unrelated HD patients which were removed by surgery. Exon 3, 4, 6 of EDNRB gene and Exon 1, 2 of EDN-3 gene were amplified by polymerase chain reaction (PCR) and analyzed by single strand conformation polymorphism (SSCP). RESULTS: EDNRB mutations were detected in 2 of the 13 short-segment HD. One mutant was in the exon 3, the other was in the exon 6. EDN-3 mutation was detected in one of the 13 short-segment HD and in the exon 2. Both EDNRB and EDN-3 mutations were detected in one short-segment HD. No mutations were detected in the ordinary or long-segment HD. CONCLUSION: The mutations of EDNRB gene and EDN-3 gene are found in the short-segment HD of sporadic Hirschsprung’s disease in Chinese population, which suggests that the EDNRB gene and EDN-3 gene play important roles in the pathogenesis of HD. |
| Databáze: | OpenAIRE |
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