Document Detail

RET 3'UTR polymorphisms and its protective role in Hirschsprung disease in Southeastern Chinese.
MedLine Citation:
PMID:  22974609     Owner:  NLM     Status:  In-Data-Review    
BACKGROUND: Hirschsprung disease (HSCR) is a complex congenital disorder characterized by intestinal obstructions owing to the absence of the intestinal ganglion cells of the nerve plexuses in variable lengths of the digestive tract. Several RET polymorphisms and haplotypes have been described as underrepresented in HSCR patients with respect to controls. We thus sought to investigate whether polymorphisms in RET 3'UTR are associated with isolated HSCR in the Chinese population.
METHODS: Polymerase chain reaction amplification and direct sequencing were used to screen polymorphisms in RET 3'UTR in patients with sporadic HSCR and ethnically matched controls in Han Chinese populations. Association tests of RET 3'UTR variants and haplotypes with HSCR were performed.
RESULTS: We examined a total of 107 Chinese sporadic HSCR patients and 89 ethnically matched controls by sequencing the 3'UTR of the RET gene. Five single nucleotide polymorphisms (SNPs) and 2 monomorphic SNPs were identified. The genotype distributions and the allele frequencies of the 5 SNPs were significantly different between HSCR cases and controls and occurred more frequently in the control population. Haplotype analysis has shown a higher frequency of haplotypes comprising variant alleles in controls as compared with cases.
CONCLUSIONS: The significant deviations of the genotype distributions and the allele frequencies of these SNPs in the HSCR population compared with the control population demonstrate that these SNPs have a strong negative association with HSCR and could act as protective alleles.
Zhi-Wen Pan; Chun-Fen Luo; Zheng-Ji Liu; Ji-Cheng Li
Related Documents :
23961079 - Correlation and identification of variable number of tandem repeats of enos gene in cor...
24348139 - Association of fas and fas ligand genes polymorphism and risk of systemic lupus erythem...
17659989 - Challenges of microsatellite isolation in fungi.
14769469 - Analysis of gyra and parc mutations in enterococci from environmental samples with redu...
7994119 - The role of molecular genetics in speciation studies.
19304589 - Patterns of intraspecific dna variation in the daphnia nuclear genome.
22707299 - Analysis of driver mutations in female non-smoker asian patients with pulmonary adenoca...
18489719 - Natural selection along an environmental gradient: a classic cline in mouse pigmentation.
23524959 - Sudden death in epilepsy: of mice and men.
Publication Detail:
Type:  Journal Article    
Journal Detail:
Title:  Journal of pediatric surgery     Volume:  47     ISSN:  1531-5037     ISO Abbreviation:  J. Pediatr. Surg.     Publication Date:  2012 Sep 
Date Detail:
Created Date:  2012-09-14     Completed Date:  -     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  0052631     Medline TA:  J Pediatr Surg     Country:  United States    
Other Details:
Languages:  eng     Pagination:  1699-705     Citation Subset:  IM    
Copyright Information:
Copyright © 2012 Elsevier Inc. All rights reserved.
Institute of Cell Biology, Zhejiang University, Hangzhou 310058, China.
Export Citation:
APA/MLA Format     Download EndNote     Download BibTex
MeSH Terms

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine

Previous Document:  Aberrant high expression of NRG1 gene in Hirschsprung disease.
Next Document:  Do open repair and different laparoscopic techniques in pediatric inguinal hernia repairs affect the...