PMID- 9002679
OWN - NLM
STAT- MEDLINE
DCOM- 19970326
LR  - 20190512
IS  - 0964-6906 (Print)
IS  - 0964-6906 (Linking)
VI  - 6
IP  - 1
DP  - 1997 Jan
TI  - Identification of a complex congenital heart defect susceptibility locus by using 
      DNA pooling and shared segment analysis.
PG  - 117-21
AB  - The identification of genetic loci involved in most forms of congenital heart 
      disease has been hampered by the complex inheritance patterns of these disorders. 
      Atrioventricular canal defects (AVCDs) are most commonly associated with Down 
      syndrome, although non-syndromic cases also occur. Non-syndromic AVCDs have been 
      attributed to multifactorial inheritance. However, the occurrence of a few 
      kindreds with multiple affected individuals has suggested that a major genetic 
      locus can account for the disorder in some families. We have used a combination 
      of DNA pooling and shared segment analysis to perform a high density screen of 
      the entire autosomal human genome in an extended kindred. In so doing, we have 
      identified a genetic locus on chromosome 1 shared by all affected individuals. 
      Our data demonstrate the existence of a congenital heart defect susceptibility 
      gene, inherited as an autosomal dominant with incomplete penetrance, involved in 
      AVCD. Furthermore, our data demonstrate the power of using key isolated kindreds 
      in combination with high density genomic screens to identify loci involved in 
      complex disorders such as congenital heart defects.
FAU - Sheffield, V C
AU  - Sheffield VC
AD  - Department of Pediatrics, University of Iowa, Iowa City 52242, USA.
FAU - Pierpont, M E
AU  - Pierpont ME
FAU - Nishimura, D
AU  - Nishimura D
FAU - Beck, J S
AU  - Beck JS
FAU - Burns, T L
AU  - Burns TL
FAU - Berg, M A
AU  - Berg MA
FAU - Stone, E M
AU  - Stone EM
FAU - Patil, S R
AU  - Patil SR
FAU - Lauer, R M
AU  - Lauer RM
LA  - eng
GR  - HG00457/HG/NHGRI NIH HHS/United States
GR  - HL42266/HL/NHLBI NIH HHS/United States
GR  - P50HG00835/HG/NHGRI NIH HHS/United States
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PT  - Research Support, U.S. Gov't, P.H.S.
PL  - England
TA  - Hum Mol Genet
JT  - Human molecular genetics
JID - 9208958
RN  - 9007-49-2 (DNA)
SB  - IM
MH  - *Chromosome Mapping
MH  - DNA
MH  - Endocardial Cushion Defects/*genetics
MH  - Female
MH  - *Genetic Predisposition to Disease
MH  - Humans
MH  - Male
MH  - Pedigree
EDAT- 1997/01/01 00:00
MHDA- 1997/01/01 00:01
CRDT- 1997/01/01 00:00
PHST- 1997/01/01 00:00 [pubmed]
PHST- 1997/01/01 00:01 [medline]
PHST- 1997/01/01 00:00 [entrez]
AID - dda017 [pii]
AID - 10.1093/hmg/6.1.117 [doi]
PST - ppublish
SO  - Hum Mol Genet. 1997 Jan;6(1):117-21. doi: 10.1093/hmg/6.1.117.