| Background Ptosis is a common clinical symptom in the department of neurology and plastic surgery.Generally speaking,without the involvement of frontal muscle,when the eyes naturally look forward in front of the head,the upper cornea is covered by the upper eyelid in a range of about 1.5mm-2mm.A variety of congenital or acquired factors cause lower margin of upper eyelid than 2mm,can be called ptosis.Blepharoptosis can be diagnosed by covering the cornea above the upper eyelid with more than 2mm,making the fissure of the affected eye smaller than normal.Congenital ptosis is a kind of congenital defect caused by incomplete development of levator muscle of upper eyelid or innervation of its motor nerve,namely,abnormal development of oculomotor nerve and weak function.So far,hundreds of related mutation sites have been found.In recent years,more and more other genes related to congenital ptosis have been studied in some medical syndromes.At present,there are few reports on the gene research of simple ptosis.In recent years,some scholars have reported that congenital ptosis,especially double-weighted congenital ptosis,may be combined with congenital heart disease,which undoubtedly increases the perioperative risk of patients,brings potential risks to patients,and also increases the medical burden.Further detection of genes that may be closely related to congenital ptosis is necessary.Objective Screening potentially harmful mutations associated with congenital ptosis by whole exon sequencing.Method From 30 cases of blood sample during 2016.11 2018.12(individuals with and without blepharoptosis;The selected individuals were all clinically confirmed patients with congenital ptosis.;24 patients and 6 normal individuals).Experimental Procedure:1,DNA testing blood samples,sample content in morethan0.6 ug sample DNA was used to build library the capture system,using liquid phase chips Agilent DNA all exons of sample area and efficient enrichment.3.Detection.4.If the library test results are qualified,Illumina sequencing platform will be used for sequencing according to the effective concentration of the obtained library and the required data output.5.After the original sequencing sequence(Sequenced Reads)is obtained,information analysis steps are carried out according to the existingreference sequence or reference genome(GRCh37/hg19).6.Data quality control.7.Conduct screening and analysis of the measured variation testresults.Result In the experiment,the total number of mutation sites before screening was 229579,and the number of remaining mutation sites after filtering 1000G library was 7242.Using the results of the previous step,the number of reserved exon regions and splicing sites was 1533.After filtering out the synonymous mutation sites,the remaining number of mutation sites was 1051.SIFT,Polyphen,MutationTaster and CADD assays identified 420 mutations that may affect protein function.Conclusion Genetic mutations are common in patients with congenital ptosis,which can be detected and observed by whole exon sequencing.The gene pool of congenital ptosis was further enriched. |
