作者：Alireza KJafari, SeyedMasoud Hoshmand, Iraj Ahadzadeghan, Faramarz Anvari, Ahmad Ameri, MohammadReza Akbari, Mohammad Taher Rajabi 作者单位：1伊朗德黑兰大学医学院眼科， Farabi眼科医院，眼科研究中心；2伊朗德黑兰大学医学院遗传学系
【摘要】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。
【关键词】杜安眼球后退综合征；聚合酶链反应；染色体
Duanes retraction syndrome and karyotypic abnormalities
Alireza KJafari, SeyedMasoud Hoshmand, Iraj Ahadzadeghan, Faramarz Anvari, Ahmad Ameri, MohammadReza Akbari, Mohammad Taher Rajabi
1Department of Ophthalmology, School of Medicine, Medical Sciences/Tehran University, Tehran, Iran
2 Department of Genetic, School of Medicine, Medical Sciences/Tehran University, Tehran, Iran
Correspondence to: Mohammad Taher Rajabi. Tehran University Eye Research Center, Farabi Eye Hospital, South Kargar ST, Tehran, Iran. [email protected]
AbstractAIM: To evaluate chromosome 8 abnormalities in Duanes 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 D8S553 and D8S1797 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.
KEYWORDS: Duanes retraction syndrome (DRS); polymerase china reaction (PCR); chromosome
INTRODUCTION
Duanes retraction syndrome (DRS) is a congenital condition associated with deficient abduction, variable impairment of adduction, and narrowing of the palpebral fissure on attempted adduction due to globe retraction[1]. It occurs in 1% of all cases of strabismus[2]. Most cases of DRS are sporadic, but about 5% show autosomal dominant inheritance[2]. Karyotypic abnormalities associated with different chromosomes have been found in patients with DRS[38]. In the present study we accessed for chromosome 8 abnormalities in 29 consecutive patients with DRS type I.
PATIENTS AND METHODS
29 consecutive patients with DRS type I that were referred to Strabismus Clinic, Farabi Eye Hospital, Tehran, Iran, were enrolled in the study. After taking informed consent, ophthalmic, neurological, and surgical histories were studied. All patients were tested for visual acuity, ocular ductions and versions, ocular alignment, up shoot, down shoot, abnormal head posture, and globe retraction. Determination of the Duane phenotype was made by one examiner (A.K.J) on the basis of limitation of abduction in one or both eyes, incomitant strabismus, and lid fissure narrowing and globe retraction on adduction of affected eyes.
After taking blood sample of each patient, DNA was isolated from the peripheral leukocytes of patients using a genomic DNA extraction kit, then D8S553 and D8S1797 markers were used for polymerase chain reaction (PCR). PCR reactions were performed in a total volume of 25 microliter containing 100ng of total DNA.
PCR conditions were as follows: initial denaturation at 94 degree of centigrade for 60 seconds, annealing at 59 degree of centigrade for 60 seconds, and extension at 72 degree of centigrade for 45 seconds with a final extension at 78 degree of centigrade for 5 seconds.
PCR fragments were separated by electrophoresis on a 12% polyacrylamid and 1.5% agaroze gel in National Institute for Genetic Engineering and Biotechnology (NIGEB).
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