No association between the snps (rs3749446 and rs1402000) in the parl gene and lhon in chinese patients with m.11778g > a
文献类型：期刊论文
| 作者 | Zhang, A-Mei1,3; Jia, Xiaoyun2; Zhang, Qingjiong2; Yao, Yong-Gang1 |
| 刊名 | Human genetics
 |
| 出版日期 | 2010-10-01 |
| 卷号 | 128期号:4页码:465-468 |
| ISSN号 | 0340-6717 |
| DOI | 10.1007/s00439-010-0875-7 |
| 通讯作者 | Yao, yong-gang(ygyaozh@gmail.com) |
| 英文摘要 | According to a recent genome-wide linkage scan and association study of families with m.11778g > a in thailand, two single nucleotide polymorphisms (snps) (rs3749446 and rs1402000) in the presenilins-associated rhomboid-like (parl) gene were found to be associated with leber hereditary optic neuropathy (lhon). in order to verify this association in chinese lhon patients, we genotyped three parl gene variants (rs3749446, rs953419, and rs1402000) in 179 patients with m.11778g > a and 170 patients with suspected lhon, and compared them to a control population containing the hapmap chinese and 58 normal individuals analyzed in this study. we identified no association between these parl gene snps and lhon in chinese patients with m.11778g > a (p > 0.05). haplotype analysis also showed no statistical difference among the three chinese populations. |
| WOS关键词 | HEREDITARY OPTIC NEUROPATHY ; MUTATION ; FAMILIES |
| WOS研究方向 | Genetics & Heredity |
| WOS类目 | Genetics & Heredity |
| 语种 | 英语 |
| WOS记录号 | WOS:000281858700012 |
| 出版者 | SPRINGER |
| URI标识 | http://www.irgrid.ac.cn/handle/1471x/2405591 |
| 专题 | 中国科学院大学 |
| 通讯作者 | Yao, Yong-Gang |
| 作者单位 | 1.Chinese Acad Sci & Yunnan Prov, Key Lab Anim Models & Human Dis Mechanisms, Kunming Inst Zool, Kunming 650223, Yunnan, Peoples R China 2.Sun Yat Sen Univ, State Key Lab Ophthalmol, Zhongshan Ophthalm Ctr, Guangzhou 510060, Guangdong, Peoples R China 3.Chinese Acad Sci, Grad Sch, Beijing 100039, Peoples R China |
| 推荐引用方式 GB/T 7714 | Zhang, A-Mei,Jia, Xiaoyun,Zhang, Qingjiong,et al. No association between the snps (rs3749446 and rs1402000) in the parl gene and lhon in chinese patients with m.11778g > a[J]. Human genetics,2010,128(4):465-468. |
| APA | Zhang, A-Mei,Jia, Xiaoyun,Zhang, Qingjiong,&Yao, Yong-Gang.(2010).No association between the snps (rs3749446 and rs1402000) in the parl gene and lhon in chinese patients with m.11778g > a.Human genetics,128(4),465-468. |
| MLA | Zhang, A-Mei,et al."No association between the snps (rs3749446 and rs1402000) in the parl gene and lhon in chinese patients with m.11778g > a".Human genetics 128.4(2010):465-468. |
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来源：中国科学院大学
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