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Heterogeneous mutations in the human lipoprotein lipase gene in patients with familial lipoprotein lipase deficiency
http://hdl.handle.net/2241/102313
http://hdl.handle.net/2241/10231373b22276-d875-40c1-ac85-3c199d75f986
| 名前 / ファイル | ライセンス | アクション |
|---|---|---|
JCI_88-6.pdf (2.0 MB)
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| Item type | Journal Article(1) | |||||
|---|---|---|---|---|---|---|
| 公開日 | 2009-04-27 | |||||
| タイトル | ||||||
| タイトル | Heterogeneous mutations in the human lipoprotein lipase gene in patients with familial lipoprotein lipase deficiency | |||||
| 言語 | en | |||||
| 言語 | ||||||
| 言語 | eng | |||||
| 資源タイプ | ||||||
| 資源タイプ識別子 | http://purl.org/coar/resource_type/c_6501 | |||||
| 資源タイプ | journal article | |||||
| アクセス権 | ||||||
| アクセス権 | open access | |||||
| アクセス権URI | http://purl.org/coar/access_right/c_abf2 | |||||
| 著者 |
Gotoda, T
× Gotoda, T× 山田, 信博× Kawamura, M× Kozaki, K× Mori, N× Ishibashi, S× Shimano, H× Takaku, F× Yazaki, Y× Furuichi, Y× Murase, T |
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| 抄録 | ||||||
| 内容記述タイプ | Abstract | |||||
| 内容記述 | The DNA sequences were determined for the lipoprotein lipase (LPL) gene from five unrelated Japanese patients with familial LPL deficiency. The results demonstrated that all five patients are homozygotes for distinct point mutations dispersed throughout the LPL gene. Patient 1 has a G-to-A transition at the first nucleotide of intron 2, which abolishes normal splicing. Patient 2 has a nonsense mutation in exon 3 (Tyr61----Stop) and patient 3 in exon 8 (Trp382----Stop). The latter mutation emphasizes the importance of the carboxy-terminal portion of the enzyme in the expression of LPL activity. Missense mutations were identified in patient 4 (Asp204----Glu) and patient 5 (Arg243----His) in the strictly conserved amino acids. Expression study of both mutant genes in COS-1 cells produced inactive enzymes, establishing the functional significance of the two mis-sense mutations. In these patients, postheparin plasma LPL mass was either virtually absent (patients 1 and 2) or significantly decreased (patients 3-5). To detect these mutations more easily, we developed a rapid diagnostic test for each mutation. We also determined the DNA haplotypes for patients and confirmed the occurrence of multiple mutations on the chromosomes with an identical haplotype. These results demonstrate that familial LPL deficiency is a heterogeneous genetic disease caused by a wide variety of gene mutations. | |||||
| 言語 | en | |||||
| 書誌情報 |
en : The journal of clinical investigation 巻 88, 号 6, p. 1856-1864, 発行日 1991-12 |
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| ISSN | ||||||
| 収録物識別子タイプ | PISSN | |||||
| 収録物識別子 | 0021-9738 | |||||
| NCID | ||||||
| 収録物識別子タイプ | NCID | |||||
| 収録物識別子 | AA00695520 | |||||
| DOI | ||||||
| 関連タイプ | isIdenticalTo | |||||
| 識別子タイプ | DOI | |||||
| 関連識別子 | https://doi.org/10.1172/JCI115507 | |||||
| PMID | ||||||
| 識別子タイプ | PMID | |||||
| 関連識別子 | 1752947 | |||||
| 権利情報 | ||||||
| 言語 | en | |||||
| 権利情報 | © The American Society for Clinical Investigation | |||||
| 出版タイプ | ||||||
| 出版タイプ | VoR | |||||
| 出版タイプResource | http://purl.org/coar/version/c_970fb48d4fbd8a85 | |||||
| 出版者 | ||||||
| 出版者 | The American Society for Clinical Investigation | |||||
| 言語 | en | |||||
