瘢痕疙瘩人亚甲基四氢叶酸还原酶基因677及1298位点的突变

Relationship between MTHFR gene mutation and keloid

目的探讨瘢痕疙瘩人亚甲基四氢叶酸还原酶（methylenetetrahydrofolate reductase，MTHFR）基因677及1298位点的突变，以及对瘢痕疙瘩形成的作用。方法收集瘢痕疙瘩标本20例，设患者自身静脉血标本为正常对照，提取基因组DNA，PCR扩增MTHFR基因677及1298位点片段，DNA测序，将测序结果与人类基因库（GenBank）比较。结果20例瘢痕疙瘩标本中有17例被检测出677位点基因突变，突变率为85．0％（17／20），有13例被检测出1298位点基因突变，突变率为65．0％（13／20）。突变类型主要为点突变、插入、缺失，为多位点、多类型，呈多态性。正常对照静脉血标本中均未检出突变。结论MTHFR基因677及1298位点突变与瘢痕疙瘩的发生有关。

Objective To study the MTHFR gene （677 gene loci and 1298 gene loci） mutations in Chinese patients with keloid. Methods The tissue DNA was extracted from 20 samples of keloids, and peripheral blood samples from the same patients were employed as the control. Polymerase chain reaction （PCR） was used to amplify the Mthfr 677 gene loci and Mthfr 1298 gene loci from the keloid tissue DNA and peripheral blood DNA. and the PCR products were sequenced directly and then compared with the GenBank data. Results Mutations were detected in 17 out of 20 keloids on Mthfr 677 gene loci, the mutation incidence was 85.0 %. Mutations were detected in 13 out of 20 keloids on Mthfr 1298 gene loci, and the mutation incidence was 65.0 %. The mutation involved point mutation, deletion and insetion as well as multisite and muhitype. No MTHFR gene mutation was detected in all peripheral blood samples . Conclusion There is a strong correlation between the MTHFR gene （677 gene loci and 1298 gene loci） mutation and keloid.