Evaluation of loss of heterozygosity of chromosome 22q11.21 region in patients with congenital heart diseases
The 22q11.21 region is prone to low-copy repeats events that lead to congenital anomaly disorders. We tested genomic DNA of 20 families with non-syndromic CHD patients using a set of three known consecutive high polymorphic short tandem repeat (STR) markers along the 22q11.21 region; D22S941, D22S94...
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Series: | The Egyptian Heart Journal |
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doaj-2f418573b96247978b61d20a65d3ff8e2020-11-25T02:40:23ZengSpringerOpenThe Egyptian Heart Journal1110-26082018-12-01704267270Evaluation of loss of heterozygosity of chromosome 22q11.21 region in patients with congenital heart diseasesEman G. Behiry0Azza A. Abo Senna1Amr E. Elnagar2Magda A. Eshiesh3Clinical & Chemical Pathology, Faculty of Medicine, Benha University, Egypt; Corresponding author.Clinical & Chemical Pathology, Faculty of Medicine, Benha University, EgyptDepartment of Cardiology, Benha University, EgyptClinical & Chemical Pathology, Faculty of Medicine, Benha University, EgyptThe 22q11.21 region is prone to low-copy repeats events that lead to congenital anomaly disorders. We tested genomic DNA of 20 families with non-syndromic CHD patients using a set of three known consecutive high polymorphic short tandem repeat (STR) markers along the 22q11.21 region; D22S941, D22S944 and D22S264 loci. We found loss of heterozygosity (LOH) in D22S941 locus in 2 out of 20 families (10%) with 2 offspring affected by ASD combined with PS and TOF respectively. No LOH found in D22S944 and D22S264 loci either in affected cases or control group and no LOH found in D22S941 in the control group. Also we observed that D22S944 locus prone to be less allele diversity than D22S941 and D22S264 loci. Keywords: 22q11.21 Microdeletion, Congenital heart defects, STR markershttp://www.sciencedirect.com/science/article/pii/S1110260818300735 |
collection |
DOAJ |
language |
English |
format |
Article |
sources |
DOAJ |
author |
Eman G. Behiry Azza A. Abo Senna Amr E. Elnagar Magda A. Eshiesh |
spellingShingle |
Eman G. Behiry Azza A. Abo Senna Amr E. Elnagar Magda A. Eshiesh Evaluation of loss of heterozygosity of chromosome 22q11.21 region in patients with congenital heart diseases The Egyptian Heart Journal |
author_facet |
Eman G. Behiry Azza A. Abo Senna Amr E. Elnagar Magda A. Eshiesh |
author_sort |
Eman G. Behiry |
title |
Evaluation of loss of heterozygosity of chromosome 22q11.21 region in patients with congenital heart diseases |
title_short |
Evaluation of loss of heterozygosity of chromosome 22q11.21 region in patients with congenital heart diseases |
title_full |
Evaluation of loss of heterozygosity of chromosome 22q11.21 region in patients with congenital heart diseases |
title_fullStr |
Evaluation of loss of heterozygosity of chromosome 22q11.21 region in patients with congenital heart diseases |
title_full_unstemmed |
Evaluation of loss of heterozygosity of chromosome 22q11.21 region in patients with congenital heart diseases |
title_sort |
evaluation of loss of heterozygosity of chromosome 22q11.21 region in patients with congenital heart diseases |
publisher |
SpringerOpen |
series |
The Egyptian Heart Journal |
issn |
1110-2608 |
publishDate |
2018-12-01 |
description |
The 22q11.21 region is prone to low-copy repeats events that lead to congenital anomaly disorders. We tested genomic DNA of 20 families with non-syndromic CHD patients using a set of three known consecutive high polymorphic short tandem repeat (STR) markers along the 22q11.21 region; D22S941, D22S944 and D22S264 loci. We found loss of heterozygosity (LOH) in D22S941 locus in 2 out of 20 families (10%) with 2 offspring affected by ASD combined with PS and TOF respectively. No LOH found in D22S944 and D22S264 loci either in affected cases or control group and no LOH found in D22S941 in the control group. Also we observed that D22S944 locus prone to be less allele diversity than D22S941 and D22S264 loci. Keywords: 22q11.21 Microdeletion, Congenital heart defects, STR markers |
url |
http://www.sciencedirect.com/science/article/pii/S1110260818300735 |
work_keys_str_mv |
AT emangbehiry evaluationoflossofheterozygosityofchromosome22q1121regioninpatientswithcongenitalheartdiseases AT azzaaabosenna evaluationoflossofheterozygosityofchromosome22q1121regioninpatientswithcongenitalheartdiseases AT amreelnagar evaluationoflossofheterozygosityofchromosome22q1121regioninpatientswithcongenitalheartdiseases AT magdaaeshiesh evaluationoflossofheterozygosityofchromosome22q1121regioninpatientswithcongenitalheartdiseases |
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