2 PEDIGREES OF AUTOSOMAL-DOMINANT ATRIOVENTRICULAR-CANAL DEFECT (AVCD) - EXCLUSION FROM THE CRITICAL REGION ON 8P
2 PEDIGREES OF AUTOSOMAL-DOMINANT ATRIOVENTRICULAR-CANAL DEFECT (AVCD) - EXCLUSION FROM THE CRITICAL REGION ON 8P
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DOI：
10.1002/ajmg.1320570325
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发表时间：
1995-07-03
期刊：
影响因子：
--
通讯作者：
DALLAPICCOLA, B
中科院分区：
文献类型：
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作者：
AMATI, F;MARI, A;DALLAPICCOLA, B
房室管缺陷（AVCD）构成唐氏综合征的主要先天性心脏病。出于这个原因，一个候选基因参与房室管的发展，以前搜索和排除在显性家系的房室传导性心脏病，从21号染色体的多态性连锁分析。由于8 p缺失与AVCD之间存在显著的关联，因此使用8 pter->q12区域的一组DNA标记在两个常染色体显性AVCD个体家系中进行了AVCD基因的搜索。这两个家庭包括受影响的个人和受试者谁已经传播了缺陷，但没有临床影响。在90%和50%的等位基因水平下，所有标记物的两点lod评分均为显著阴性。多点分析排除了由标记LPL-D8 S262和30 cM覆盖到该区域任一侧的区域。这一结果证实了这种心脏缺陷的异质性，并表明家族性AVCD的遗传基础不同于与21三体或8 p缺失相关的AVCD。(C)1995年Wiley-Liss，Inc.
Atrioventricular canal defects (AVCD) constitute the predominant congenital heart defect in Down syndrome. For this reason, a candidate gene involved in atrioventricular canal development was previously searched and excluded in dominant pedigrees of AVCD, using linkage analysis of polymorphisms from chromosome 21. Because of the striking association between 8p deletion and AVCD, a search for an AVCD gene was carried out in two pedigrees of individuals with autosomal dominant AVCD using a set of DNA markers of the 8pter-->q12 region. These two families include affected individuals and subjects who have transmitted the defect but are not clinically affected. Two-point lod scores were significantly negative for all markers at penetrance levels of 90% and 50%. Multipoint analysis excluded the region covered by the markers LPL-D8S262 and 30 cM to either side of this area. This result corroborates heterogeneity of this heart defect and indicates that the genetic basis of familial AVCD is different from AVCD associated to either trisomy 21 or 8p deletion. (C) 1995 Wiley-Liss, Inc.