[Association and mutation analysis of GLI3 gene in idiopathic congenital talipes equinovarus].
OBJECTIVE
To explore the association and mutation of GLI3 gene in idiopathic congenital talipes equinovarus(ICTEV).


METHODS
(1) Genotype of 2 single nucleotide polymorphism (SNP) in 84 idiopathic congenital talipes equinovarus nuclear pedigree were analyzed by restriction fragment length polymorphism. Association analysis was directed between single SNP locus and ICTEV through ETDT software, respectively.(2) Mutation sites in exon 9,10,11,12 of GLI3 gene were detected in 103 patients with ICTEV by denaturing gradient gel electrophoresis technique.


RESULTS
rs929387ls located in exon 14 of GLI3 gene have transmission disequilibrium in 84 nuclear pedigrees (P<0.05), and rs846266 located in exon 4 have no transmission disequilibrium (P>0.05). A synonymous mutation in exon 9 was detected in one patient and his mother.


CONCLUSIONS
There is an association between GLI3 gene and ICTEV, and exons 9,10,11,12 are not its mutation hot spots.
Zhang
Xuan
X
Department of Medical Genetics, China Medical University, Shenyang, Liaoning, 110001 PR China.
Jin
Chun-lian
CL
Liu
Li-ying
LY
Zhao
Ning
N
Zhang
Li-jun
LJ
Ji
Shi-jun
SJ
Sun
Kai-lai
KL
D000293:Adolescent; D000328:Adult; D000483:Alleles; D002648:Child; D002675:Child, Preschool; D003025:Clubfoot / Q000235:genetics*; D005260:Female; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease / Q000235:genetics; D005838:Genotype; D006801:Humans; D007223:Infant; D015810:Linkage Disequilibrium; D008297:Male; D009154:Mutation; D016133:Polymerase Chain Reaction; D020641:Polymorphism, Single Nucleotide / Q000235:genetics*; D055815:Young Adult