CAJ | 학술논문

目的检测引起2个家系产生X连锁视网膜色素变性的RP2基因突变。方法根据RP2基因外显子和内含子DNA序列合成8对引物，以人基因组DNA为模板，PCR扩增出包含RP2基因所有外显子的8个片段。扩增产物纯化后直接测序。通过比较病人和正常人相应的DNA序列，检测基因突变位点。结果在2个家系中首次检测到RP2基因的同一个无义突变358C→T。突变位于RP2基因的第2外显子。它使该基因编码精氨酸的遗传密码CGA变为终止密码TGA,引起发病。结论该突变的检出有助于RP2蛋白的功能分析和X连锁视网膜色素变性的基因诊断。
목적 검측인기2개가계산생X련쇄시망막색소변성적RP2기인돌변。방법 근거RP2기인외현자화내함자DNA서렬합성8대인물，이인기인조DNA위모판，PCR확증출포함RP2기인소유외현자적8개편단。확증산물순화후직접측서。통과비교병인화정상인상응적DNA서렬，검측기인돌변위점。결과 재2개가계중수차검측도RP2기인적동일개무의돌변358C→T。돌변위우RP2기인적제2외현자。타사해기인편마정안산적유전밀마CGA변위종지밀마TGA,인기발병。결론 해돌변적검출유조우RP2단백적공능분석화X련쇄시망막색소변성적기인진단。
Objective To detect mutations of the RP2 gene in two Chinesefamilies with X-linked retinitis pigmentosa (XLRP). Methods Eight pairs of primers designed from exon and intron sequence of the RP2 gene were used for the amplification of eight segments which encompass all exons of the gene. PCR were carried out with human genomic DNA as the template. The PCR products were sequenced after being purified. Mutation was identified by comparing DNA sequences of patients with that of normal controls. Results The mutation 358C→T was detected in exon 2 of the RP2 gene in both families. It changed the codon CGA for Arginine to a terminator codon TGA and causes retinitis pigmentosa in the two families. Conclusion The mutation 358C→T is useful in analyzing the function of RP2 protein and gene diagnosis of XLRP.