先天性心脏病患者22q11.21区杂合性缺失的评价

IF 1.4 Q3 CARDIAC & CARDIOVASCULAR SYSTEMS Egyptian Heart Journal Pub Date : 2018-12-01 DOI:10.1016/j.ehj.2018.07.003

Eman G. Behiry , Azza A. Abo Senna , Amr E. Elnagar , Magda A. Eshiesh

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引用次数: 0

摘要

22q11.21区域容易发生导致先天性异常疾病的低拷贝重复事件。我们使用一组沿22q11.21区域的三个已知的连续高多态性短串联重复(STR)标记检测了20个非综合征性冠心病患者家庭的基因组DNA;D22S941, D22S944和D22S264基因座。在20个分别有2个ASD合并PS和TOF的后代的家庭中，有2个(10%)的D22S941位点存在杂合性缺失(LOH)。D22S944和D22S264位点在感染病例和对照组中均未发现LOH，对照组D22S941位点未发现LOH。D22S944位点的等位基因多样性低于D22S941和D22S264位点。

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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, 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.

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来源期刊

Egyptian Heart Journal CARDIAC & CARDIOVASCULAR SYSTEMS-

CiteScore

2.10

自引率

0.00%

发文量

审稿时长

9 weeks

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.