Liu Li, Chen Haoming, Liu Mugen, Jin Lei, Wei Yong, Wu Xuejun, Liu Youe, Xhu Renyuan, Chai Jianhua
Human Genome Laboratory, Institute of Genetics, Fudan University, Shanghai 200433, China.
Chin Med J (Engl). 2002 Jun;115(6):833-6.
To detect mutations of the retinitis pigmentosa GTPase regulator (RPGR) gene in two Chinese X-linked retinitis pigmentosa families.
Fragments of exons 1-19 of the RPGR gene were amplified with intronic primers, using genomic DNA as template. The polymerase chain reaction (PCR) products were analysed by single-strand conformation polymorphism (SSCP) and direct sequencing. Mutations were identified by comparing DNA sequences of the patients with those of the normal controls.
Two novel mutations, c1536delC and E332X, were identified in exons 12 and 9 of the RPGR gene in both families. Each mutation was the first mutation found in their respective exons. Both mutations were predicted to cause premature termination, which resulted in truncated proteins without normal functions of the RPGR products.
Both mutations are the genetic basis of the pathogenesis in the respective families. Our data might be helpful in analysing the function of the RPGR protein.
检测两个中国X连锁视网膜色素变性家系中视网膜色素变性GTP酶调节蛋白（RPGR）基因的突变情况。
以基因组DNA为模板，用内含子引物扩增RPGR基因第1至19外显子片段。聚合酶链反应（PCR）产物通过单链构象多态性（SSCP）和直接测序进行分析。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RPGR基因第12和9外显子中均鉴定出两个新突变，即c1536delC和E332X。每个突变都是在其各自外显子中首次发现的突变。这两个突变均预计会导致提前终止，从而产生没有RPGR产物正常功能的截短蛋白。
这两个突变都是各自家系发病机制的遗传基础。我们的数据可能有助于分析RPGR蛋白的功能。
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