[Analysis of association between 5' HOXD gene and idiopathic congenital talipes equinovarus].
OBJECTIVE
Four single nucleotide polymorphisms (SNP) in HOXD10, HOXD12 and HOXD13 genes were chosen to investigate SNP and haplotypes distribution in idiopathic congenital talipes equinovarus nuclear pedigrees.


METHODS
Genotypes of 4 SNPs in 84 idiopathic congenital talipes equinovarus nuclear pedigrees were analyzed by restriction fragment length polymorphism and DNA sequencing. Analysis of association between SNP locus and idiopathic congenital talipes equinovarus was performed using ETDT software. Haplotypes and their frequencies in 84 nuclear pedigrees were established and analyzed by TRANSMIT software.


RESULTS
rs847151 polymorphism was not detected; the rs847154 located in 5' flanking sequence of HOXD12 gene and the rs13392701 located in exon 1 of HOXD13 gene were noted to have transmission disequilibrium in 84 nuclear pedigrees (P < 0.05).


CONCLUSIONS
rs847154 located in 5' flanking sequence of HOXD12 gene and rs13392701 located in exon 1 of HOXD13 gene are associated with idiopathic congenital talipes equinovarus; HOXD12 andHOXD13 are important susceptible genes of idiopathic congenital talipes equinovarus.
Wang
Li-li
LL
Department of Medical Genetics, China Medical University, Shenyang, Liaoning, P. R. China.
Jin
Chun-lian
CL
Liu
Li-ying
LY
Zhang
Xuan
X
Ji
Shi-jun
SJ
Sun
Kai-lai
KL
D000293:Adolescent; D000328:Adult; D002648:Child; D002675:Child, Preschool; D003025:Clubfoot / Q000235:genetics*; D005091:Exons / Q000235:genetics; D005260:Female; D020022:Genetic Predisposition to Disease / Q000235:genetics; D005838:Genotype; D018398:Homeodomain Proteins / Q000235:genetics*; D006801:Humans; D007223:Infant; D008297:Male; D010375:Pedigree; D016133:Polymerase Chain Reaction; D020641:Polymorphism, Single Nucleotide; D055815:Young Adult
C410304:HOXC10 protein, human; C410305:HOXC13 protein, human; D018398:Homeodomain Proteins