Wilson L, Curtis A, Korenberg J R, Schipper R D, Allan L, Chenevix-Trench G, Stephenson A, Goodship J, Burn J
Division of Human Genetics, University of Newcastle-upon-Tyne, England.
Am J Hum Genet. 1993 Dec;53(6):1262-8.
We describe a large pedigree of individuals with autosomal dominant atrioventricular septal defect (AVSD). The pedigree includes affected individuals and individuals who have transmitted the defect but are not clinically affected. AVSDs are a rare congenital heart malformation that occurs as only 2.8% of isolated cardiac lesions. They are the predominant heart defect in children with Down syndrome, making chromosome 21 a candidate for genes involved in atrioventricular septal development. We have carried out a linkage study in the pedigree by using 10 simple-sequence polymorphisms from chromosome 21. Multipoint linkage analysis gives lod scores of less than -2 for the region of trisomy 21 associated with heart defects, which excludes a locus within this region as the cause of the defect in this family.
我们描述了一个患有常染色体显性遗传房室间隔缺损（AVSD）的大家族谱系。该谱系包括受影响的个体以及传递了该缺陷但无临床症状的个体。房室间隔缺损是一种罕见的先天性心脏畸形，仅占孤立性心脏病变的2.8%。它们是唐氏综合征患儿中主要的心脏缺陷，这使得21号染色体成为参与房室间隔发育的基因的候选对象。我们通过使用来自21号染色体的10个单序列多态性对该谱系进行了连锁研究。多点连锁分析得出，与心脏缺陷相关的21号染色体三体区域的lod分数小于-2，这排除了该区域内的一个基因座是这个家族中缺陷病因的可能性。
