Transmission disequilibrium test for congenital dislocation of the hip and HOXB9 gene or COL1AI gene / 中华医学遗传学杂志

ABSTRACT

<p><b>OBJECTIVE</b>To detect the correlation between the congenital dislocation of the hip (CDH) and HOXB9 gene or COL1AI gene.</p><p><b>METHODS</b>A microsatellite DNA marker D17S1820 was chosen in the region of chromosome 17q21 where exists the HOXB9 gene which regulates the embryonic limb development and exists the COL1AI gene. The genotypes of 303 members in 101 CDH nuclear family trios were analyzed by the techniques of polymerase chain reaction(PCR) and denaturing polyacrylamide gel electrophoresis. Then transmission disequilibrium test (TDT) was used to test the data of genotypes.</p><p><b>RESULTS</b>There exist 12 alleles at this polymorphic locus. Transmission disequilibrium was found between CDH and the fourth allele of D17S1820 (chi-square=6.025,P=0.014).</p><p><b>CONCLUSION</b>CDH is associated with the region of chromosome 17q21. HOXB9 gene and/or COL1AI gene may be susceptibility genes of CDH.</p>