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Identity-by-descent refines mapping of candidate regions for preaxial polydactyly II /III in a large Chinese pedigree
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...
Autores principales: | , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
BioMed Central
2017
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5496229/ https://www.ncbi.nlm.nih.gov/pubmed/28690477 http://dx.doi.org/10.1186/s41065-017-0040-6 |
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author | Yang, Xingyan Shen, Quankuan Sulaiman, Xierzhatijiang Liu, Hequn Peng, Minsheng Zhang, Yaping |
author_facet | Yang, Xingyan Shen, Quankuan Sulaiman, Xierzhatijiang Liu, Hequn Peng, Minsheng Zhang, Yaping |
author_sort | Yang, Xingyan |
collection | PubMed |
description | 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. ELECTRONIC SUPPLEMENTARY MATERIAL: The online version of this article (doi:10.1186/s41065-017-0040-6) contains supplementary material, which is available to authorized users. |
format | Online Article Text |
id | pubmed-5496229 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2017 |
publisher | BioMed Central |
record_format | MEDLINE/PubMed |
spelling | pubmed-54962292017-07-07 Identity-by-descent refines mapping of candidate regions for preaxial polydactyly II /III in a large Chinese pedigree Yang, Xingyan Shen, Quankuan Sulaiman, Xierzhatijiang Liu, Hequn Peng, Minsheng Zhang, Yaping Hereditas Brief Report 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. ELECTRONIC SUPPLEMENTARY MATERIAL: The online version of this article (doi:10.1186/s41065-017-0040-6) contains supplementary material, which is available to authorized users. BioMed Central 2017-07-03 /pmc/articles/PMC5496229/ /pubmed/28690477 http://dx.doi.org/10.1186/s41065-017-0040-6 Text en © The Author(s) 2017 Open AccessThis article is distributed under the terms of the Creative Commons Attribution 4.0 International License (http://creativecommons.org/licenses/by/4.0/), which permits unrestricted use, distribution, and reproduction in any medium, provided you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/) applies to the data made available in this article, unless otherwise stated. |
spellingShingle | Brief Report Yang, Xingyan Shen, Quankuan Sulaiman, Xierzhatijiang Liu, Hequn Peng, Minsheng Zhang, Yaping Identity-by-descent refines mapping of candidate regions for preaxial polydactyly II /III in a large Chinese pedigree |
title | Identity-by-descent refines mapping of candidate regions for preaxial polydactyly II /III in a large Chinese pedigree |
title_full | Identity-by-descent refines mapping of candidate regions for preaxial polydactyly II /III in a large Chinese pedigree |
title_fullStr | Identity-by-descent refines mapping of candidate regions for preaxial polydactyly II /III in a large Chinese pedigree |
title_full_unstemmed | Identity-by-descent refines mapping of candidate regions for preaxial polydactyly II /III in a large Chinese pedigree |
title_short | Identity-by-descent refines mapping of candidate regions for preaxial polydactyly II /III in a large Chinese pedigree |
title_sort | identity-by-descent refines mapping of candidate regions for preaxial polydactyly ii /iii in a large chinese pedigree |
topic | Brief Report |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5496229/ https://www.ncbi.nlm.nih.gov/pubmed/28690477 http://dx.doi.org/10.1186/s41065-017-0040-6 |
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