Preliminary research on gene mutation in 10 children patients with esophageal atresia
10.3969/j.issn.1673-4130.2017.22.021
- VernacularTitle:10例食道闭锁患儿基因变异的初探
- Author:
Longqing ZHONG
1
;
Jinshi HUANG
;
Qiang TAO
;
Hao WAN
;
Rong DUAN
;
Jiangwei KE
Author Information
1. 江西省儿童医院检验科
- Keywords:
esophageal atresia;
whole exome sequencing;
pathogenic genes
- From:
International Journal of Laboratory Medicine
2017;38(22):3131-3133
- CountryChina
- Language:Chinese
-
Abstract:
Objective To explore the genetic variation in children patients with esophageal atresia (EA ) to provide a prophase basis for further studying EA pathogenesis .Methods Ten children cases of EA were collected from the neonatal surgery department of our hospital .The high-throughput whole-exon sequencing was used to study the genetic variations ,and their clinical significance was analyzed by the bioinformatics methods .Results In the high quality sequencing data ,the effective clean reads accounted for 85 .36% ,in which 97% of the clean reads could participate in the comparison with the reference genes .The comparison analysis obtained 520541 single nucleotide polymorphism sites ,in which single nucleotide variation(SNV) occurred at 149622 sites ,including synonymous mutation ,nonsynonymous mutation ,stop codon gain ,stop codon loss ,frameshift insertion ,nonframeshift insertion ,unknown mutation ;meanwhile ,598 copy number variation genes were detected .The functional cluster analysis revealed that the mutant genes were closely related to cell biology .Conclusion The SNV occurrence may influence the expression and function of body various proteins and may play an important role in EA pathogenesis .
