Identity-by-descent refines mapping of candidate regions for preaxial polydactyly II /III in a large Chinese pedigree
- Resource Type
- Authors
- Xierzhatijiang Sulaiman; Min-Sheng Peng; He-Qun Liu; Quan-Kuan Shen; Ya-Ping Zhang; Xing-Yan Yang
- Source
- Hereditas, Vol 155, Iss 1, Pp 1-5 (2017)
Hereditas
- Subject
- 0301 basic medicine
China
lcsh:QH426-470
IBD
Single-nucleotide polymorphism
Congenital hand
Computational biology
030105 genetics & heredity
Biology
Polymorphism, Single Nucleotide
Identity by descent
SHH
Congenital Abnormalities
03 medical and health sciences
Human disease
Asian People
Chromosome (genetic algorithm)
Gene duplication
LMBR1
Genetics
Humans
Brief Report
Preaxial polydactyly
Chromosome Mapping
General Medicine
7q36
Causal gene
Pedigree
Polydactyly
lcsh:Genetics
Chromosomes, Human, Pair 7
Mandibulofacial Dysostosis
PPD
- Language
- English
- ISSN
- 1601-5223
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.