Identification of three missense mutations in the peroxisome proliferator-activated receptor α gene in Japanese subjects with maturity-onset diabetes of the young
| Autor: | Xiaoyu Wang, Naoko Iwasaki, Graeme I. Bell, Manami Hara, Yasuhiko Iwamoto, Veronica P Paz, Masashi Honda |
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| Rok vydání: | 2001 |
| Předmět: |
Adult
Male Mutation Missense Receptors Cytoplasmic and Nuclear Peroxisome proliferator-activated receptor Biology medicine.disease_cause Maturity onset diabetes of the young Gene Frequency Japan Diabetes mellitus Genetics medicine Humans Missense mutation Coding region Genetic Testing Age of Onset Gene Alleles Genetics (clinical) Family Health chemistry.chemical_classification Mutation Chi-Square Distribution Intron Genetic Variation medicine.disease Diabetes Mellitus Type 2 chemistry Case-Control Studies Female Transcription Factors |
| Zdroj: | Journal of Human Genetics. 46:285-288 |
| ISSN: | 1435-232X 1434-5161 |
| DOI: | 10.1007/s100380170080 |
| Popis: | We screened the protein-coding region of the peroxisome proliferator-activated receptor alpha gene (PPARA) and the flanking intron sequences for mutations in 57 unrelated Japanese subjects with maturity-onset diabetes of the young (MODY). We found three missense mutations, designated P22R, D140Y, and V227A. The D140Y and V227A mutations were found at similar frequencies in MODY and in nondiabetic Japanese subjects, suggesting that they were unlikely to be pathogenic. The P22R mutation was found in a single female subject with MODY. Two of her four siblings, all of whom were diagnosed with diabetes before age 35 years, also inherited the P22R mutation. However, two other diabetic siblings had not inherited the mutant allele, implying that the P22R mutation was not the cause of MODY in this family. Variation in the coding region of PPARA is unlikely to be a major cause of MODY in Japanese people. |
| Databáze: | OpenAIRE |
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