染色体17q21区域发育性髋关节发育不良易感基因的定位  

Gene mapping of developmental dysplasia of the hip in chromosome 17q21 region

作　　者：李连永[1] 孙学科 赵群[1] 张立军[1] 李祁伟[1] 王莉莉[3] 高红[3] 

机构地区：[1]中国医科大学附属盛京医院小儿骨科,沈阳110004 [2]辽宁省刑事科学技术研究所DNA鉴定中心 [3]卫生部小儿先天畸形重点实验室

出　　处：《中华医学遗传学杂志》2010年第6期620-625,共6页Chinese Journal of Medical Genetics

基　　金：国家自然科学基金（30600654）;辽宁省科学技术计划项目（2005225013-1）

摘　　要：目的 在染色体17q21区域的D17S1820附近定位发育性髋关节发育不良（developmental dysplasia of the hip,DDH）的易感基因.方法 根据等位基因的数目（≥5）、杂合度（≥0.70）及多态信息含量（≥0.5）,在D17S1820附近选择了11个短串联重复序列（short tandem repeat,STR）位点,采用PCR-毛细管电泳的方法,对103个DDH核心家系的309名成员进行基因分型,并进行传递不平衡检验（transmission disequilib rium test,TDT）.结果 D17S810和D17S931因不能提供充足的多态信息,未进行TDT检验.其余9个STR多态位点在103个核心家系中的基因型分析结果符合孟德尔遗传模式.TDT检验结果显示,位于两端的D17S1787和D17S787与DDH不存在传递不平衡,而D17S855、D17S858、D17S806、D17S1877、D17S941、D17S752及D17S790与DDH均存在传递不平衡.将DDH易感基因的区域初步定位于D17S855～D17S790之间约11.70 cM的范围内.结论 17号染色体D17S855～D17S790之间约11.70 cM的区域与DDH有关联,在该区域可能存在DDH的易感基因.Objective To map the susceptibility gene of developmental dysplasia of the hip（DDH） in chromosome 17q21 region. Methods According to the number of alleles （ ≥ 5）, heterozygosity （≥0. 70）and polymorphic information content （PIC≥ 0.5）, 11 STR markers in the 17q21 region were chosen for transmission disequilibrium test （TDT）. STR markers were amplified by PCR and genotypes were analyzed by capillary electrophoresis in 103 trio families. TDT was used to locate the susceptibility gene in 17q21 region. Results Because of a low genetic polymorphism, D17S810 and D17S931 loci were removed from the TDT. Transmission disequilibrium was detected at D17S855, D17S858, D17S806, D17S1877,D17S941, D17S752 and D17S790, which overlapped 11. 7 cM in 17q21. However, no transmission disequilibrium was found at D17S1787 and D17S787. Thus, the susceptibility gene for DDH was located in the chromosome region between D17S855 and D17S790. Conclusion The susceptibility gene for DDH is narrowed to an 11.7cM region of 17q21.31-17q22, between STR loci D17S855 and D17S790.

关 键 词：发育性髋关节发育不良 传递不平衡检验 易感基因 基因定位 

分 类 号：R686[医药卫生—骨科学]