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Genetic Analysis of Human Congenital Heart Disease Based on Array-CGH

Author: NiuGuanNan
Tutor: ZhengYang
School: Jilin University
Course: Clinical
Keywords: Congenital heart disease adult genetics array-CGH
CLC: R541.1
Type: Master's thesis
Year: 2011
Downloads: 108
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Abstract


Congenital heart diseases (CHD) are the most prevalent type of inborn defect, An actual fact is, numerous CHD patients in China hardly achieved any medical treatment due to the financial condition or other reasons, fortunately, many of which has survived at least till their adulthood. Array comparative genome hybridization (CGH) is a molecular cytogenetic technique dedicated to the identification of DNA copy number changes in a test genome relative to a reference genome.Purpose:Array-CGH was performed to recognize the genotype of the 56 adult patients, and try to discover the similarity of genetics character of the adult CHD patients, or the difference with the non-adult CHD patients’ genetype.Method:Patients were recruited prospectively (from 2009 to 2011)at the Cardiovascular Department of First hospital attached to Jilin University. And array-CGH was performed, and a suitable analysis was done using the SignalMap software.Result:(1)Among the all 56 adult CHD,18 were found with a chromosome aberration.7 of all the patients were detect as a chromosome duplication,8 of which were detect with a chromosome deletion, the other 3 were combined with both deletion and duplication. But the related gene has nothing in common.(2)Patient No.8 were dected as VSD and found an deletion at 22q 11.21. Patient No.19 were dected as Ebstein’s anomal and found an duplication at 22q 11.21. Other chromosome aberration dected from the group hardly related to CHD according to the literature.Conclusion:(1)Array Comparative Genomic Hybridization were performed on 56 adult congenital heart disease patients.17 of which show the different type of chromosome aberration. Among which 7 were chromosome duplication,8 of which were detect with a chromosome deletion, the other 3 were combined with both deletion and duplication.(2)Among all the chromosome aberration,2 of the were found as an aberrationo related to the CHD. Patient No.8, an Ventricular septal defect sufferer, were the deletion of chromosome 22q11, which is the common 22q11 deletion syndrome. And the other patient, patient No.19, the Ebstein’s anomal sufferer, was dected with an chromosome 22q11 duplication. Other patients with chromosome aberration was also found, but the gene related to CHD according the literature were hardly found among those genes.(3)Through the research, we did not find the genotype of the adult CHD patients any thing different with the non-adult CHD sufferers. And we did not find anything in common among the 56 patient’s genetics character. To sum up, No difference of genotype were existed between the adult CHD patients and the non-adult CHD patients, and nothing common were detected from all the 56 adult CHD patients based on array-CGH.

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CLC: > Medicine, health > Internal Medicine > Heart, blood vessels ( circulatory ) disease > Heart disease > Congenital heart disease
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