Identity-by-descent refines mapping of candidate regions for preaxial polydactyly II /III in a large Chinese pedigree
文献类型:期刊论文
作者 | Yaping Zhang1,2,3,4,5; Xingyan Yang3; Xierzhatijiang Sulaiman6; Minsheng Peng1,2,4,5; Hequn Liu2 |
刊名 | Hereditas
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出版日期 | 2018 |
期号 | 155页码:2 |
关键词 | Ppd Ibd 7q36 Lmbr1 Shh |
DOI | 10.1186/s41065-017-0040-6 |
英文摘要 | Preaxial polydactyly (PPD) is congenital hand malformation characterized by the duplication of digit. Herein, wescan the genome-wide SNPs for a large Chinese family with PPD-II/III. We employ the refined IBD algorithm toidentify the identity-by-decent (IBD) segments and compare the frequency among the patients and normalrelatives. A total of 72 markers of 0.01 percentile of the permutation are identified as the peak signals. Among ofthem, 57markers locate on chromosome 7q36 which is associated with PPD. Further analyses refine the mapping ofcandidate region in chromosome 7q36 into two 380 Kb fragments within LMBR1 and SHH respectively. IBDapproach is a suitable method for mapping causal gene of human disease. Target-enrichment sequencing as wellas functional experiments are required to illustrate the pathogenic mechanisms for PPD in the future. |
语种 | 英语 |
源URL | [http://159.226.149.26:8080/handle/152453/12374] ![]() |
专题 | 昆明动物研究所_分子进化基因组学 |
通讯作者 | Minsheng Peng |
作者单位 | 1.Kunming Institute of Zoology, Chinese Academy of Sciences, 32 Jiaochang Donglu, Kunming 650223, China. 2.State Key Laboratory of Genetic Resources and Evolution, Kunming Institute of Zoology, Kunming, China 3.State Key Laboratory for Conservation and Utilization of Bio-resources in Yunnan, Yunnan University, Kunming, China 4.Kunming College of Life Science, University of Chinese Academy of Sciences, Kunming, China. 5.KIZ /CUHK Joint Laboratory of Bio-resources and Molecular Research in Common Diseases, Kunming, China 6.Basic Medical College, Xinjiang Medical University, Ürümqi 830011, China |
推荐引用方式 GB/T 7714 | Yaping Zhang,Xingyan Yang,Xierzhatijiang Sulaiman,et al. Identity-by-descent refines mapping of candidate regions for preaxial polydactyly II /III in a large Chinese pedigree[J]. Hereditas,2018(155):2. |
APA | Yaping Zhang,Xingyan Yang,Xierzhatijiang Sulaiman,Minsheng Peng,&Hequn Liu.(2018).Identity-by-descent refines mapping of candidate regions for preaxial polydactyly II /III in a large Chinese pedigree.Hereditas(155),2. |
MLA | Yaping Zhang,et al."Identity-by-descent refines mapping of candidate regions for preaxial polydactyly II /III in a large Chinese pedigree".Hereditas .155(2018):2. |
入库方式: OAI收割
来源:昆明动物研究所
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