دورية أكاديمية
Mutation screening in 18 Caucasian families suggest the existence of other MODY genes
| العنوان: | Mutation screening in 18 Caucasian families suggest the existence of other MODY genes |
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| المؤلفون: | Chevre, JC, Maes, Marc, Hani, EH, Boutin, P, Vaxillaire, M., Blanche, H, Vionnet, N., Pardini, VC, Timsit, J, Larger, E, Charpentier, G., Beckers, D., Bellanne-Chantelot, C, Velho, G., Froguel, P. |
| المساهمون: | UCL - Cliniques universitaires Saint-Luc, UCL - MD/GYPE - Département de gynécologie, d'obstétrique et de pédiatrie |
| المصدر: | Diabetologia : clinical and experimental diabetes and metabolism, Vol. 41, no. 9, p. 1017-23 (1998) |
| بيانات النشر: | Springer Verlag |
| سنة النشر: | 1998 |
| المجموعة: | DIAL@UCL (Université catholique de Louvain) |
| مصطلحات موضوعية: | Transcription Factors, Promoter Regions, Genetic, Polymorphism, Phosphoproteins, Pedigree, Nuclear Proteins, Male, Humans, Hepatocyte Nuclear Factor 4, Hepatocyte Nuclear Factor 1-beta, Hepatocyte Nuclear Factor 1-alpha, Hepatocyte Nuclear Factor 1, Genetic Testing, Genetic Linkage, Female, Exons, European Continental Ancestry Group, Diabetes Mellitus, Type 2, DNA-Binding Proteins, DNA Mutational Analysis, Chromosomes, Human, Pair 7, Pair 20, Pair 13, Pair 12, Basic Helix-Loop-Helix Leucine Zipper Transcription Factors, Adult |
| الوصف: | Maturity-onset diabetes of the young (MODY) is a heterogeneous subtype of non-insulin-dependent diabetes mellitus characterised by early onset, autosomal dominant inheritance and a primary defect in insulin secretion. To date five MODY genes have been identified: hepatocyte nuclear factor-4 alpha (HNF-4 alpha/MODY1/TCF14) on chromosome 20 q, glucokinase (GCK/MODY2) on chromosome 7p, hepatocyte nuclear factor-1 alpha (HNF-1 alpha/MODY3/TCF1) on chromosome 12q, insulin promoter factor-1 (IPF1/MODY4) on chromosome 13q and hepatocyte nuclear factor-1 beta (HNF-1 beta/MODY5/TCF2) on chromosome 17cen-q. We have screened the HNF-4 alpha:, HNF-1 alpha and HNF-1 beta genes in members of 18 MODY kindreds who tested negative for glucokinase mutations. Five missense (G31D, R159W, A161T, R200W, R271W), one substitution at the splice donor site of intron 5 (IVS5nt + 2T --> A) and one deletion mutation (P379fsdelT) were found in the HNF-1 alpha gene, but no MODY-associated mutations were found in the HNF-4 alpha and HNF-1 beta genes. Of 67 French MODY families that we have now studied, 42 (63%) have mutations in the glucokinase gene, 14 (21%) have mutations in the HNF-1 alpha gene, and 11 (16%) have no mutations in the HNF-4 alpha, IPF1 and HNF-1 beta genes. Eleven families do not have mutations in the five known MODY genes suggesting that there is at least one additionnal locus that can cause MODY. |
| نوع الوثيقة: | article in journal/newspaper |
| اللغة: | English |
| تدمد: | 0012-186X 1432-0428 |
| العلاقة: | boreal:45070; http://hdl.handle.net/2078.1/45070Test; info:pmid/9754819; urn:ISSN:0012-186X; urn:EISSN:1432-0428 |
| DOI: | 10.1007/s001250051025 |
| الإتاحة: | https://doi.org/10.1007/s001250051025Test http://hdl.handle.net/2078.1/45070Test |
| حقوق: | info:eu-repo/semantics/restrictedAccess |
| رقم الانضمام: | edsbas.E9E26CF3 |
| قاعدة البيانات: | BASE |
Full Text Finder | تدمد: | 0012186X 14320428 |
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| DOI: | 10.1007/s001250051025 |