[先天性髋关节脱位与HOXB9基因或COL1AI基因的传递不平衡检验]

[Transmission disequilibrium test for congenital dislocation of the hip and HOXB9 gene or COL1AI gene].

作者信息

Jiang Jun, Ma Hong-wei, Lu Yao, Wang Yue-ping, Wang Yang, Li Qi-wei, Ji Shi-jun

机构信息

Genetic Laboratory, the Second Clinical College, China Medical University, Shenyang, Liaoning, 110004 PR China.

出版信息

Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2003 Jun;20(3):193-5.

PMID:12778441

Abstract

OBJECTIVE

To detect the correlation between the congenital dislocation of the hip (CDH) and HOXB9 gene or COL1AI gene.

METHODS

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.

RESULTS

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).

CONCLUSION

CDH is associated with the region of chromosome 17q21. HOXB9 gene and/or COL1AI gene may be susceptibility genes of CDH.

摘要

目的

检测先天性髋关节脱位（CDH）与HOXB9基因或COL1AI基因之间的相关性。

方法

在17号染色体q21区域选择一个微卫星DNA标记D17S1820，该区域存在调控胚胎肢体发育的HOXB9基因以及COL1AI基因。采用聚合酶链反应（PCR）技术和变性聚丙烯酰胺凝胶电泳对101个CDH核心家系三联体中的303名成员的基因型进行分析。然后用传递不平衡检验（TDT）对基因型数据进行检验。