X-性连锁隐性遗传视网膜色素变性致病基因的突变检测

Screening the mutation of RPGR and RP2 gene for X-linked retinitis pigmentosa

目的对X-性连锁隐性遗传视网膜色素变性(XL-RP)家系进行视网膜GTP酶调节因子(RPGR)、RP2基因的突变检测。方法抽取XLRP家系先证者、家族成员及正常对照者外周静脉血,提取基因组DNA,聚合酶链反应扩增(PCR),直接测序检测RP2基因和RPGR基因的所有外显子和内含子交界处序列,包括RPGR基因突变热区15号外显子开放阅读框(ORF15)。结果在ORF15开放阅读框区检测到c.3396C>T,c.3430G>A(p.V1144I),RPGR和RP2基因中没有检测到突变。结论这2个XLRP家系患者的发病可能不是由RPGR和RP2基因突变所致,而由X染色体上的其他基因突变引起。

Objective To detect the mutations of GTPase regulator（RPGR）gene and RP2 gene in 2 families with X-linked retinitis pigmentosa.Methods Genomic DNA was extracted from the peripheral blood of the RP patients,the relatives of the families and the normal controls.The exons of the genes were amplified by the polymerase chain reaction（PCR）,the mutations of RPGR and RP2 gene were screened by direct sequencing of the PCR products.Screening all the exons and exon/intron boundaries of the two genes,including the mutation hot spot-exon open reading frame 15（ORF15）of RPGR.Results Two polymorphisms（c.3396C〉T,c.3430G〉A）were detected in this family 1,no mutations were found in the two families.Conclusion The phenotype of the two families may not be caused by mutation of RPGR gene and RP2 gene,and may be linked to the other genes in the X chromosome.