Identification of forty-five novel and twenty-three knownNF1 mutations in Chinese patients with neurofibromatosis type 1
| العنوان: | Identification of forty-five novel and twenty-three knownNF1 mutations in Chinese patients with neurofibromatosis type 1 |
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| المؤلفون: | Chia-Li Yu, Huey-Ling You, Wu-Liang Hwu, Wang-Chao Lee, Yi-Ning Su, Shinn-Chong Chiou, Li-Chu Lin, Ming-Jen Lee, Chih-Chao Yang, Fon-Jou Hsieh, Dennis A. Stephenson |
| المصدر: | Human Mutation. 27:832-832 |
| بيانات النشر: | Hindawi Limited, 2006. |
| سنة النشر: | 2006 |
| مصطلحات موضوعية: | Adult, Male, China, Neurofibromatosis 1, Adolescent, DNA Mutational Analysis, Gene Dosage, Loss of Heterozygosity, Heteroduplex Analysis, Biology, medicine.disease_cause, Gene dosage, Cohort Studies, Loss of heterozygosity, Exon, Genes, Neurofibromatosis 1, Genetics, medicine, Humans, Neurofibromatosis, Child, Gene, Genetics (clinical), Mutation, Infant, Exons, Middle Aged, medicine.disease, Neurofibromin 1, Child, Preschool, biology.protein, Female, RNA Splice Sites, Gene Deletion, Heteroduplex |
| الوصف: | Neurofibromatosis type 1 (NF1), characterized by skin neurofibromas and an excess of café-au-lait spots, is due to mutations in the neurofibromin (NF1) gene. Identifying the genetic defect in individuals with the disease represents a significant challenge because the gene is extremely large with a high incidence of sporadic mutations across the entire gene ranging from single nucleotide substitutes to large deletions. In the present study, we have used a combination of techniques (heteroduplex analysis, sequencing, loss of heterozygosity and quantification of gene dosage) to define the genetic defect in 68 individuals from a cohort of 107 NF1 Taiwanese patients of Chinese origin. Fifty-eight were initially identified using heteroduplex analytical techniques and confirmed by sequence analysis. A further five were identified by direct sequence analysis alone. The reminders were shown to carry large deletions in the NF1 gene by demonstrating loss of heterozygosity that was confirmed by gene dosage measurements using quantitative-PCR techniques. Mis-sense, non-sense, frame-shift or splice-site mutations were identified across the entire gene of which the majority (45/68) were novel in nature. The detection rate with the various analytical techniques and the types of mutation detected are consistent with published data involving both individuals and large cohort studies from other ethnic backgrounds. |
| تدمد: | 1098-1004 1059-7794 |
| الوصول الحر: | https://explore.openaire.eu/search/publication?articleId=doi_dedup___::297bf22d79177305fb041a0d62f77a6dTest https://doi.org/10.1002/humu.9446Test |
| حقوق: | OPEN |
| رقم الانضمام: | edsair.doi.dedup.....297bf22d79177305fb041a0d62f77a6d |
| قاعدة البيانات: | OpenAIRE |
| تدمد: | 10981004 10597794 |
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