中国科学院机构知识库网格
Chinese Academy of Sciences Institutional Repositories Grid
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
出版日期2018
期号155页码:2
关键词Ppd Ibd 7q36 Lmbr1 Shh
DOI10.1186/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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