MICRODELETIONS OF CHROMOSOMAL REGION 22Q11 IN PATIENTS WITH CONGENITAL CONOTRUNCAL CARDIAC DEFECTS
MICRODELETIONS OF CHROMOSOMAL REGION 22Q11 IN PATIENTS WITH CONGENITAL CONOTRUNCAL CARDIAC DEFECTS
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DOI：
10.1136/jmg.30.10.807
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发表时间：
1993-10-01
影响因子：
4
通讯作者：
EMANUEL, BS
中科院分区：
文献类型：
--
作者：
GOLDMUNTZ, E;DRISCOLL, D;EMANUEL, BS
先天性圆锥动脉干心脏缺陷在DiGeorge综合征（DGS）患者中发生频率增加。以往的研究表明，大多数DGS或腭心面综合征（VCFS）患者在染色体22q11区域内存在微缺失。我们假设，圆锥动脉干缺陷的患者谁没有被诊断为DGS或VCFS也将有22q11缺失。对17名患有DGS或VCFS中最常见的三种圆锥动脉干缺陷之一的非综合征患者进行了22q11缺失评估。使用来自DiGeorge关键区域内的DNA探针。使用限制性片段长度多态性评估基因座的杂合性。通过使用Southern印迹分析或中期扩散的荧光原位杂交的剂量分析确定拷贝数。剂量分析显示，17例患者中有5例存在22q11缺失。这项研究显示了一些圆锥动脉干心脏畸形的发展的遗传贡献，并改变了在某些情况下，这些缺陷的遗传风险的知识。
Congenital conotruncal cardiac defects occur with increased frequency in patients with DiGeorge syndrome (DGS). Previous studies have shown that the majority of patients with DGS or velo-cardiofacial syndrome (VCFS) have a microdeletion within chromosomal region 22q11. We hypothesised that patients with conotruncal defects who were not diagnosed with DGS or VCFS would also have 22q11 deletions. Seventeen non-syndromic patients with one of three types of conotruncal defects most commonly seen in DGS or VCFS were evaluated for a 22q11 deletion. DNA probes from within the DiGeorge critical region were used. Heterozygosity at a locus was assessed using restriction fragment length polymorphisms. Copy number was determined by dosage analysis using Southern blot analysis or fluorescence in situ hybridisation of metaphase spreads. Five of 17 patients were shown to have a 22q11 deletion when evaluated by dosage analysis. This study shows a genetic contribution to the development of some conotruncal cardiac malformations and alters knowledge regarding the risk of heritability of these defects in certain cases.