眼翼状胬肉KI-ras密码子12点突变的检测  

Detection of point mutations at codon 12 of KI-ras in ophthalmic pterygia

作　　者：Detorakis E.T. Zafiropoulos A. Arvanitis D.A. Spandidos D.A. 司冰心 

机构地区：[1]Univ. Hospital of Alexandroupolis, 68100 Dragana Alexandroupolis Thrace, Greece

出　　处：《世界核心医学期刊文摘（眼科学分册）》2005年第8期50-50,共1页Digest of the World Core Medical Journals:Ophthalmology

摘　　要：Aims: Ophthalmic pterygium is a potentially vision-threatening lesion of unkn own etiology, related to an exposure to solar light. Mutations to the ras genes are frequently observed in lesions related to an exposure to solar light. The pr esent study aims at screening pterygia for mutations at codons 12 and 13 of the ras genes. Methods: In all, 50 pterygia were examined, together with respective blood samples and specimens of normal conjunctiva. A PCR reaction was performed to amplify sequences containing codons 12 and 13 of Ki-ras, H-ras, and N-ras. An RFLP analysis was then performed to detect point mutations at codon 12. The mutational status at codons 12 and 13 was further explored with sequencing of PC R products. Results: RFLP analysis revealed Ki-ras mutations at codon 12 in fiv e (10%) of pterygia, whereas H-ras or N-ras mutations were not observed. Sequ encing confirmed Ki-ras mutations at codon 12 and revealed absence of mutations at codon 13. The presence of Ki-ras mutations was significantly correlated wit h postoperative recurrence (P=0.02) and young age (P=0.04). Mutations were not o bserved in specimens of blood or normal conjunctiva for any of the genes examine d. Conclusions: The absence of Nras mutations is in agreement with previous repo rts concerning mucosal lesions. The detection of Ki-ras mutations and the assoc iation with postoperative recurrence implies a possible role of Ki-ras in the c linical profile of pterygium. The mechanism of Ki-ras mutations is unclear and could be independen t of the action of UV light.Aims: Ophthalmic pterygium is a potentially vision-threatening lesion of unkn own etiology, related to an exposure to solar light. Mutations to the ras genes are frequently observed in lesions related to an exposure to solar light. The pr esent study aims at screening pterygia for mutations at codons 12 and 13 of the ras genes. Methods: In all, 50 pterygia were examined, together with respective blood samples and specimens of normal conjunctiva. A PCR reaction was performed to amplify sequences containing codons 12 and 13 of Ki-ras, H-ras, and N-ras. An RFLP analysis was then performed to detect point mutations at codon 12. The mutational status at codons 12 and 13 was further explored with sequencing of PC R products. Results: RFLP analysis revealed Ki-ras mutations at codon 12 in fiv e (10%) of pterygia, whereas H-ras or N-ras mutations were not observed. Sequ encing confirmed Ki-ras mutations at codon 12 and revealed absence of mutations at codon 13. The presence of Ki-ras mutations was significantly correlated wit h postoperative recurrence (P=0.02) and young age (P=0.04). Mutations were not o bserved in specimens of blood or normal conjunctiva for any of the genes examine d. Conclusions: The absence of Nras mutations is in agreement with previous repo rts concerning mucosal lesions. The detection of Ki-ras mutations and the assoc iation with postoperative recurrence implies a possible role of Ki-ras in the c linical profile of pterygium. The mechanism of Ki-ras mutations is unclear and could be independen t of the action of UV light.

关 键 词：KI-RAS 翼状胬肉 密码子 点突变 结膜组织 日光照射 突变情况 潜在作用 临床发展 

分 类 号：R777.33[医药卫生—眼科]