Mutation analysis of a large Chinese pedigree with congenital preaxial polydactyly
文献类型：期刊论文
| 作者 | Li H1,2,3; Wang YC1,2,3; Yan XY4; Chen YG4; Zhao LH[*]4; Zhang YP[*]1,2; Wang JX2; Wu GS1; Yu P4 |
| 刊名 | EUROPEAN JOURNAL OF HUMAN GENETICS
 |
| 出版日期 | 2009 |
| 卷号 | 17期号:5页码:604-610 |
| 关键词 | preaxial polydactyly chromosome 7q36 sonic hedgehog ZRS conserved noncoding sequence |
| 通讯作者 | zhaoluhang@263.net ; zhangyp1@263.net.cn |
| 英文摘要 | Mutations in the long-range limb-specific cis-regulator (ZRS) could cause ectopic shh gene expression and are responsible for preaxial polydactyly (PPD). In this study, we analyzed a large Chinese isolated autosomal dominant PPD pedigree. By fine mapping and haplotype construction, we located the linked region to a 1.7 cM interval between flanking markers D7S2465 and D7S2423 of chromosome 7q36. We directly sequenced the candidate loci in this linked region, including the coding regions of the five genes (HLXB9, LMBR1, NOM1, RNF32 and C7orf13), the regulatory element ( ZRS) of shh, the whole intron 5 of LMBR1 which contained the ZRS, and 18 conserved noncoding sequences (CNSs). Interestingly, no pathogenic mutation was identified. By using real-time quantitative PCR (qPCR), we also excluded the ZRS duplication in this pedigree. Our results indicate that, at least, it is not the mutation in a functional gene, CNS region or duplication of ZRS that cause the phenotype of this pedigree. The etiology of this PPD family still remains unclear and the question whether another limb-specific regulatory element of shh gene exists in the noncoding region in this 1.7 cM interval remains open for future research. |
| 收录类别 | SCI |
| 资助信息 | This work was supported by the Key State Research Program of China (2006CB943900), Science and Technology Committee of Yunnan Province and the National Natural Science Foundation of China (30621092, 30671162). |
| 语种 | 英语 |
| 源URL | [http://159.226.149.26:8080/handle/152453/10855]  |
| 专题 | 昆明动物研究所_分子进化基因组学 昆明动物研究所_遗传资源与进化国家重点实验室 |
| 作者单位 | 1.State Key Laboratory of Genetic Resources and Evolution, Kunming Institute of Zoology, Chinese Academy of Sciences, Kunming, China 2.Laboratory for Conservation and Utilization of Bio-resource, Yunnan University, Kunming, China 3.Graduate School of the Chinese Academy of Sciences, Beijing, China 4.Department of Biochemistry and Genetics, Medical College of Zhejiang University, Hangzhou, China |
| 推荐引用方式 GB/T 7714 | Li H,Wang YC,Yan XY,et al. Mutation analysis of a large Chinese pedigree with congenital preaxial polydactyly[J]. EUROPEAN JOURNAL OF HUMAN GENETICS,2009,17(5):604-610. |
| APA | Li H.,Wang YC.,Yan XY.,Chen YG.,Zhao LH[*].,...&Yu P.(2009).Mutation analysis of a large Chinese pedigree with congenital preaxial polydactyly.EUROPEAN JOURNAL OF HUMAN GENETICS,17(5),604-610. |
| MLA | Li H,et al."Mutation analysis of a large Chinese pedigree with congenital preaxial polydactyly".EUROPEAN JOURNAL OF HUMAN GENETICS 17.5(2009):604-610. |
入库方式： OAI收割
来源：昆明动物研究所
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