A LARGE, DOMINANT PEDIGREE OF ATRIOVENTRICULAR SEPTAL-DEFECT (AVSD) - EXCLUSION FROM THE DOWN-SYNDROME CRITICAL REGION ON CHROMOSOME-21

被引:0
作者
WILSON, L
CURTIS, A
KORENBERG, JR
SCHIPPER, RD
ALLAN, L
CHENEVIXTRENCH, G
STEPHENSON, A
GOODSHIP, J
BURN, J
机构
[1] UNIV NEWCASTLE UPON TYNE, DIV HUMAN GENET, NEWCASTLE UPON TYNE NE2 4AA, ENGLAND
[2] CEDARS SINAI MED CTR, DIV MED GENET, LOS ANGELES, CA USA
[3] GUYS HOSP, DIV PAEDIAT CARDIOL, LONDON, ENGLAND
[4] QUEENSLAND INST MED RES, BRISBANE, AUSTRALIA
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中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
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.
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页码:1262 / 1268
页数:7
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