Evaluation of the ELOVL4 gene in a Chinese family with autosomal dominant STGD3-like macular dystrophy
文献类型：期刊论文
| 作者 | Lai, Z; Zhang, XN; Zhou, W; Yu, R; Le, YP |
| 刊名 | JOURNAL OF CELLULAR AND MOLECULAR MEDICINE
 |
| 出版日期 | 2005 |
| 卷号 | 9期号:4页码:961-965 |
| 关键词 | Stargardt disease-3-like macular dystrophy autosomal dominant ELOVL4 gene RDS gene ABCR gene mutation |
| 通讯作者 | Zhang, XN (reprint author), Zhejiang Univ, Coll Med, Dept Med Genet, 353 Yan An Rd, Hangzhou 310031, Zhejiang Prov, Peoples R China.,zhangxianning@zju.edu.cn |
| 英文摘要 | Stargardt disease-3 (STGD3) is an autosomal dominant juvenile-onset macular dystrophy characterized by progressive decreasing visual acuity, bilateral atrophic changes in the macula and absence of characteristic dark choroids. We identified a STGD3-like macular dystrophy pedigree by clinical examination. To explore whether the STGD3-like phenotype in the kindred is linked to ELOVL4 gene or associated with any other identified STGD gene, we extracted genomic DNA from leukocytes of peripheral blood from the available family members and 50 normal controls for mutation analysis. Then the exons of ELOVL4, RDS and the three exons of ABCR were amplified by polymerase chain reaction (PCR). All PCR products were screened for mutations by combination of denaturing high-performance liquid chromatography (DHPLC) analysis and DNA sequencing. No mutation was found in the exons of three candidate genes, but we obtained three non-pathogenic polymorphisms, IVS5-2533T-->A in ELOVL4, 558C-->T (Vall06Val) and 1150G-->C (Glu304Gln) in RDS. And IVS5-2533T-->A is never shown in the previous references. These data suggested that there exist other unknown genes responsible for the STGD3-like phenotype in the pedigree. |
| 学科主题 | Cell Biology; Research & Experimental Medicine |
| 类目[WOS] | Cell Biology ; Medicine, Research & Experimental |
| 关键词[WOS] | MUTATION |
| 收录类别 | SCI |
| 语种 | 英语 |
| WOS记录号 | WOS:000234360300015 |
| 版本 | 出版稿 |
| 源URL | [http://202.127.25.143/handle/331003/1887]  |
| 专题 | 上海生化细胞研究所_上海生科院生化细胞研究所 |
| 推荐引用方式 GB/T 7714 | Lai, Z,Zhang, XN,Zhou, W,et al. Evaluation of the ELOVL4 gene in a Chinese family with autosomal dominant STGD3-like macular dystrophy[J]. JOURNAL OF CELLULAR AND MOLECULAR MEDICINE,2005,9(4):961-965. |
| APA | Lai, Z,Zhang, XN,Zhou, W,Yu, R,&Le, YP.(2005).Evaluation of the ELOVL4 gene in a Chinese family with autosomal dominant STGD3-like macular dystrophy.JOURNAL OF CELLULAR AND MOLECULAR MEDICINE,9(4),961-965. |
| MLA | Lai, Z,et al."Evaluation of the ELOVL4 gene in a Chinese family with autosomal dominant STGD3-like macular dystrophy".JOURNAL OF CELLULAR AND MOLECULAR MEDICINE 9.4(2005):961-965. |
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