杜安眼球后退综合征和染色体组异常(英文)

Duane's retraction syndrome and karyotypic abnormalities

目的:观察I型杜安眼球后退综合征患者的第8染色体。方法:连续观测了29例I型杜安眼球后退综合征患者的第8染色体。采用质粒DNA提取试剂盒方法从患者的外周血白细胞里分离提取DNA,选取D8S553和D8S1797做标记,用PCR法进行测定。结果:实验的所有病人样本中没有D8S553和D8S1797标记阳性。结论:我们的发现提示所观察的I型杜安眼球后退综合征患者的可能病因是属散发病例而没有家族史,建议纳入更多病例、选取其他的标记和不同的染色体进行进一步的研究。

AIM： To evaluate chromosome 8 abnormalities in Duane＇s retraction syndrome （DRS） type I. METHODS： We evaluated chromosome 8 abnormalities in 29 consecutive cases of DRS type I. DNA was isolated from the peripheral leukocytes of patients using a genomic DNA extraction kit, then DSS553 and DSS1797 markers used for polymerase chain reaction （PCR）. RESULTS： None of the cases were positive for the two markers D8S553 and D8S1797 on chromosome 8 which were tested in our study. CONCLUSION ： The possible cause of this finding is that DRS in our patients is more commonly sporadic rather than familial. We recommend study with more cases, other markers, and different chromosomes.