DOWN′S综合征遗传规律探讨  

Research for genetic rule of Down′s syndrome

作　　者：景春梅[1] 朱静[2] 邓兵[2] 张伟[2] 何俊琳[3] 王应雄[3] 

机构地区：[1]重庆医科大学附属儿童医院临床检验中心,400014 [2]重庆医科大学附属儿童医院儿科研究所,400014 [3]重庆医科大学公共卫生学院

出　　处：《检验医学与临床》2007年第12期1137-1138,共2页Laboratory Medicine and Clinic

基　　金：重庆市卫生局科研资助项目(01-03-008)

摘　　要：目的探讨Down′s综合征的遗传规律。方法Down′s综合征患儿及其双亲21号染色体上D21S11和D21S14142个短串联重复序列用聚合酶链反应进行扩增,用变性聚丙烯酰胺凝胶电泳(8%)、硝酸银染色技术对扩增后的产物进行分离。结果Down′s综合征患儿电泳条带包含了母亲的全部电泳条带,而与父亲的电泳条带只有部分相同。结论Down′s综合征发病与父母的核型无关,它是减数分裂时不分离的结果,多余的一条21号染色体一般来自母亲。Objective To search for the genetic rule of Down＇s syndrome. Methods The small tandem repeats （STR） of D21S11 and D21S1414 on chromosome 21 were analyzed by polymerase chain reaction （PCR）, Down＇s syndrome samples （blood） and their parents＇ samples （blood） with denaturing polyacrylamide gel （8%） and silver nitrate staining. Results The two bands usually derived from mother, and another derived from father in bands of the Down＇s syndrome ongel electrophoresis. Conclusion Onset of Down＇s syndrome does not have the relationship with the karyotype of the parents. It is due to nondisjunction of meiotic division. Besides, the extra chromosome 21 derives from mother usually.

关 键 词：Down’s综合征 遗传 短串联重复序列 

分 类 号：R394[医药卫生—医学遗传学]