Liu L, Wei Y, Chen H
Department of Human Genes, Institute of Genetics, Fudan University, Shanghai 200433, China.
Zhonghua Yi Xue Za Zhi. 2001 Jan 25;81(2):71-2.
To detect mutations of the RP2 gene in two Chinese families with X-linked retinitis pigmentosa (XLRP).
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.
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.
The mutation 358C-->T is useful in analyzing the function of RP2 protein and gene diagnosis of XLRP.
检测两个中国X连锁视网膜色素变性（XLRP）家系中RP2基因的突变情况。
根据RP2基因的外显子和内含子序列设计8对引物，用于扩增包含该基因所有外显子的8个片段。以人基因组DNA为模板进行PCR。PCR产物纯化后进行测序。通过比较患者与正常对照的DNA序列来鉴定突变。
在两个家系的RP2基因第2外显子中均检测到358C→T突变。该突变将精氨酸的密码子CGA变为终止密码子TGA，导致两个家系出现视网膜色素变性。
358C→T突变有助于分析RP2蛋白的功能及XLRP的基因诊断。
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