Identity-by-descent refines mapping of candidate regions for preaxial polydactyly in a large Chinese pedigree
文献类型：期刊论文
| 作者 | Shen QK2,3,4; Peng MS2,3,4; Liu HQ4; Yang XY5; zhangyp@mail.kiz.ac.cn; pengminsheng@mail.kiz.ac.cn; Sulaiman X1; Zhang YP*2,3,4,5 |
| 刊名 | Hereditas
 |
| 出版日期 | 2018 |
| 卷号 | 155期号:X页码:e2 |
| 关键词 | Ppd Ibd 7q36 Lmbr1 Shh |
| 英文摘要 | Preaxial polydactyly (PPD) is congenital hand malformation characterized by the duplication of digit. Herein, we scan the genome-wide SNPs for a large Chinese family with PPD-II/III. We employ the refined IBD algorithm to identify the identity-by-decent (IBD) segments and compare the frequency among the patients and normal relatives. A total of 72 markers of 0.01 percentile of the permutation are identified as the peak signals. Among of them, 57markers locate on chromosome 7q36 which is associated with PPD. Further analyses refine the mapping of candidate region in chromosome 7q36 into two 380 Kb fragments within LMBR1 and SHH respectively. IBD approach is a suitable method for mapping causal gene of human disease. Target-enrichment sequencing as well as functional experiments are required to illustrate the pathogenic mechanisms for PPD in the future. |
| 语种 | 英语 |
| 资助机构 | This study was supported by grants from National Natural Science Foundation of China and Bureau of Science and Technology of Yunnan Province. This work was also supported by the Animal Branch of the Germplasm Bank of Wild Species, Chinese Academy of Sciences (the Large Research Infrastructure Funding). ; This study was supported by grants from National Natural Science Foundation of China and Bureau of Science and Technology of Yunnan Province. This work was also supported by the Animal Branch of the Germplasm Bank of Wild Species, Chinese Academy of Sciences (the Large Research Infrastructure Funding). ; This study was supported by grants from National Natural Science Foundation of China and Bureau of Science and Technology of Yunnan Province. This work was also supported by the Animal Branch of the Germplasm Bank of Wild Species, Chinese Academy of Sciences (the Large Research Infrastructure Funding). ; This study was supported by grants from National Natural Science Foundation of China and Bureau of Science and Technology of Yunnan Province. This work was also supported by the Animal Branch of the Germplasm Bank of Wild Species, Chinese Academy of Sciences (the Large Research Infrastructure Funding). |
| 源URL | [http://159.226.149.26:8080/handle/152453/12089]  |
| 专题 | 昆明动物研究所_遗传资源与进化国家重点实验室 昆明动物研究所_分子进化基因组学 |
| 通讯作者 | zhangyp@mail.kiz.ac.cn; pengminsheng@mail.kiz.ac.cn |
| 作者单位 | 1.Basic Medical College, Xinjiang Medical University, Ürümqi 830011, China 2.KIZ /CUHK Joint Laboratory of Bio-resources and Molecular Research in Common Diseases, Kunming, China 3.Kunming College of Life Science, University of Chinese Academy of Sciences, Kunming, China 4.State Key Laboratory of Genetic Resources and Evolution, Kunming Institute of Zoology, Kunming, China 5.State Key Laboratory for Conservation and Utilization of Bio-resources in Yunnan, Yunnan University, Kunming, China |
| 推荐引用方式 GB/T 7714 | Shen QK,Peng MS,Liu HQ,et al. Identity-by-descent refines mapping of candidate regions for preaxial polydactyly in a large Chinese pedigree[J]. Hereditas,2018,155(X):e2. |
| APA | Shen QK.,Peng MS.,Liu HQ.,Yang XY.,zhangyp@mail.kiz.ac.cn.,...&Zhang YP*.(2018).Identity-by-descent refines mapping of candidate regions for preaxial polydactyly in a large Chinese pedigree.Hereditas,155(X),e2. |
| MLA | Shen QK,et al."Identity-by-descent refines mapping of candidate regions for preaxial polydactyly in a large Chinese pedigree".Hereditas 155.X(2018):e2. |
入库方式： OAI收割
来源：昆明动物研究所
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