[Susceptibility gene location of simple congenital heart defect by transmission disequilibrium test].
OBJECTIVE
To locate the susceptibility gene of human simple congenital heart defect(CHD) and provide a sound basis for further gene cloning.


METHODS
Three short tandem repeats(STRs) in regions of chromosome 7p14-15, 17q21 where exist Hox gene family's A, B clusters which regulate the embryonic heart development were chosen. Genotypes of 112 members in 39 CHD families were analyzed by amplifying the STR fragments using fluorescence-PCR technique. Then transmission disequilibrium test(TDT) was used to test the data of genotypes.


RESULTS
Statistical chi(2) values of D7S1808, D7S673 and D17S791 were 31.3(P<0.005), 11.12(P<0.05) and 6.65 (P>0.05) respectively. These suggest that the former two are associated with CHD, while the latter is not.


CONCLUSIONS
Human simple CHD is associated with Hox gene A cluster. Hox A gene may be a candidate CHD's susceptive genes. The location of the CHD's susceptive genes is in chromosome 7p14-15.
Zhang
K
K
Department of Medical Genetics, China Medical University, Shenyang, 110001 P.R.China. KLSUN@IRIS.CMU.EDU.CN
Sun
G
G
Jin
C
C
Qiu
G
G
Yuan
Y
Y
Sun
K
K
D002897:Chromosomes, Human, Pair 7; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D006330:Heart Defects, Congenital / Q000235:genetics*; D006801:Humans; D020080:Tandem Repeat Sequences