Dissertation
Dissertation > Medicine, health > Pediatrics > Children within the science > Pediatric cardiac and vascular disease

Frequency of Chromosome 22q11.2 Microdeletion in Sporadic Non-syndromic Conotruncal Heart Defects by Multiplex Ligation-dependent Probe Amplification

Author DengJianYing
Tutor ZhangZeWei
School Zhejiang University
Course Pediatrics
Keywords Conotruncal Chromosome 22q11.2 Deformity MLPA
CLC R725.4
Type Master's thesis
Year 2011
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Objective: This study on the the MLPA diagnosis of chromosome 22q11.2 microdeletion results evaluation , and application of MLPA incidence of Simple conotruncal defects chromosome 22q11.2 microdeletion . Method : application MLPA and FISH methods were used to detect the 32 children ( 16 boys , 16 girls ; ages 1-13 years old, with an average of 3.6 ± 3.1 years ) and peripheral blood samples , of which 16 cases have been diagnosed as chromosome The 22q11.2 microdeletion children ( positive control group ) , 16 cases of children with normal physical examination ( negative control group ) . The sensitivity, specificity , and Kappa analysis to evaluate the results . Secondly , MLPA 77 cases 0-10 years of simple conotruncal malformation (CTD) of children with chromosome 22q11.2 microdeletion screening , and positive samples for fluorescence in situ hybridization (FISH) verification . Fisher accuracy test , P lt; 0.05 was statistically significant . Results : MLPA detected sample of 32 cases , 16 cases of positive control samples were chromosome 22q11.2 microdeletion , and about 3- Mb deletion fragment length ; 16 patients with negative control samples not found on chromosome 22 is missing . FISH confirmed 16 cases of the 22q11.2 microdeletion children were presence of chromosome 22 deletion , a negative control sample of 16 cases there are no missing . MLPA diagnosis of chromosome 22q11.2 microdeletion high sensitivity and specificity . MLPA chromosome 22 microdeletion screening , conducted on 77 cases of isolated CTD children in TOF disease ( TOF ) 55 cases , 4 cases of ventricular septal defect with pulmonary atresia ( PA - VSD) , 8 cases of right ventricular double outlet ( DORV ) , 10 patients with transposition of the great arteries bit ( TGA ) . 6 cases (7.8%) occurred in children with chromosome 22q11.2 microdeletion , including four cases of TOF cases of PA-VSD, 1 case of DORV ; 10 cases of TGA in children with 22q11.2 deletion were not found . Conclusion : 1.MLPA is a fast, reliable , high-throughput and relative economic diagnosis of chromosome 22q11.2 microdeletion effective way to make up for the lack of FISH technology , clinical laboratory can be used for rapid diagnosis of chromosome 22q11.2 microdeletion , has a high diagnostic value . 2 Simple CTD chromosome 22q11.2 microdeletion incidence of approximately 7.8% . Simple CTD children , PA-VSD, DORV and TOF ratio TGA more susceptible to chromosome 22q11.2 microdeletion . Clinicians should strengthen simple CTD children , genetic screening and counseling .

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