Eman G. Behiry , Azza A. Abo Senna , Amr E. Elnagar , Magda A. Eshiesh
{"title":"Evaluation of loss of heterozygosity of chromosome 22q11.21 region in patients with congenital heart diseases","authors":"Eman G. Behiry , Azza A. Abo Senna , Amr E. Elnagar , Magda A. Eshiesh","doi":"10.1016/j.ehj.2018.07.003","DOIUrl":null,"url":null,"abstract":"<div><p>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.</p></div>","PeriodicalId":44962,"journal":{"name":"Egyptian Heart Journal","volume":"70 4","pages":"Pages 267-270"},"PeriodicalIF":1.4000,"publicationDate":"2018-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1016/j.ehj.2018.07.003","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Egyptian Heart Journal","FirstCategoryId":"1085","ListUrlMain":"https://www.sciencedirect.com/science/article/pii/S1110260818300735","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q3","JCRName":"CARDIAC & CARDIOVASCULAR SYSTEMS","Score":null,"Total":0}
引用次数: 0
Abstract
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.
期刊介绍：
The Egyptian Heart Journal is the official journal of the Egyptian Society of Cardiology. It is an international journal that publishes peer-reviewed articles on all aspects of cardiovascular disease, including original clinical studies and translational investigations. The journal publishes research, review articles, case reports and commentary articles, as well as editorials interpreting and commenting on the research presented. In addition, it provides a forum for the exchange of information on all aspects of cardiovascular medicine, including educational issues.
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