寻常性银屑病患者维甲酸受体α内含子碱基突变

目的　分析银屑病患者维甲酸受体外显子附近的内含子碱基序列 ,寻找寻常性银屑病患者基底细胞维甲酸受体低表达的原因。方法　选取对维甲酸有不同反应性的寻常性银屑病患者有核细胞 ,提取其DNA ,通过聚合酶链反应扩增维甲酸受体α(RARα)的外显子序列 ,对扩增产物进行序列分析。结果　与已报告的维甲酸受体碱基序列相比 ,第七内含子第 17位碱基存在差异 ,出现T→G改变 ,而第 18位和第 5 5位出现碱基T的缺失 ,但选取的寻常性银屑病患者间未发现彼此间内显子碱基序列存在差异。结论　寻常性银屑病患者维甲酸受体α第七内含子碱基序列发生突变 ,由于目前对第七内含子的功能知之甚少 ,还不能确定其在维甲酸受体表达中具体的作用 ,但从目前对内含子的研究结果推测其可能与维甲酸受体的表达有关。

Mutation in Intron of Retinoic Acid Receptor Alpha in Patients with Psoriasis Vulgaris

Objective To analyze nucleotid sequence of the intron near the exon of retinoic acid receptor in patients with psoriasis vulgaris,to investigate the mechanism for reasonablely explaining the low expression in the basal cell of the patients with psoriasis vulgaris.Methods The karyotes of patients with psoriasis vulgaris whose reactivity to retinoic acid were different were selected and the DNA was extracted, then amplify with polymerase chain reaction and examine the sequence of exons of retinoic acid receptor α(RARα).Results When compared to the reported neucletid sequence of RAR α,there was difference at 17th base pair on the intron 7,indicating change of T→G and base pairs of 18th and 55th were absent.But no difference of intron was found between these selected patients with psoriasis vulgaris.Conclusion Mutations in intron 7 of retinoic acid receptor of the patients with psoriasis vulgaris occurred.Because the function of intron 7 is not known well so far,its accurate function for expression of retinoic acid receptor is not certain.But it can be deduced from the results that intron probably correlate with the expression of retinoic acid receptor.