CAJ | 학술논문

目的定量检测非综合征型耳聋患者mtDNA A1555G突变型/野生型的拷贝数,探讨mtDNA A1555G突变型的拷贝数与临床表型之间的关系.方法建立RT-ARMS-qPCR系统对含突变型和野生型mtDNA 1555位点的拷贝数进行定量检测并计算其突变的比例.结合散发组和家系组耳聋患者的临床资料,分析mtDNA A1555G突变型的拷贝数与耳聋严重程度的关系.结果散发组mtDNA A1555G同质性突变的患者中,突变拷贝数与耳聋轻重程度无关(R=0.001,P=0.997);散发组mtDNA A1555G异质性突变的患者中,突变型与野生型的拷贝数比例与耳聋轻重程度相关(R=0.771,P=0.003);家系组mtDNA A1555G同质性突变的拷贝数与耳聋轻重程度相关(R=0.341,P=0.022);家系组mtDNA A1555G异质性突变的拷贝数与耳聋轻重程度相关(R=0.85,P=0.015).结论含mtDNA A1555G点突变的拷贝数与非综合征性耳聋的严重程度密切相关,为揭示非综合征耳聋临床表型多样性奠定了基础.
목적 정량검측비종합정형이롱환자mtDNA A1555G돌변형/야생형적고패수,탐토mtDNA A1555G돌변형적고패수여림상표형지간적관계.방법 건립RT-ARMS-qPCR계통대함돌변형화야생형mtDNA 1555위점적고패수진행정량검측병계산기돌변적비례.결합산발조화가계조이롱환자적림상자료,분석mtDNA A1555G돌변형적고패수여이롱엄중정도적관계.결과 산발조mtDNA A1555G동질성돌변적환자중,돌변고패수여이롱경중정도무관(R=0.001,P=0.997);산발조mtDNA A1555G이질성돌변적환자중,돌변형여야생형적고패수비례여이롱경중정도상관(R=0.771,P=0.003);가계조mtDNA A1555G동질성돌변적고패수여이롱경중정도상관(R=0.341,P=0.022);가계조mtDNA A1555G이질성돌변적고패수여이롱경중정도상관(R=0.85,P=0.015).결론 함mtDNA A1555G점돌변적고패수여비종합정성이롱적엄중정도밀절상관,위게시비종합정이롱림상표형다양성전정료기출.
Objective To study the correlation between the number of mtDNA (mitochondrial DNA) copies containing mtDNA A1555G mutation site and phenotype and further elucidate the molecular genetic basis of phenotype diversity of nonsyndromic hearing loss. Methods Real time-amplification refractory mutation system-quantitative PCR was employed to detect the number of mtDNA copies in mild type and mutant type of mtDNA 1555. Results In the sporadic group, there was no significant correlation between mtDNA A1555G homogenicity mutation copies and phenotype (R = 0.001, P = 0.997) while significant correlation existed between mtDNA A1555G heteroplasmic mutations and phenotype (R =0.771, P = 0.003). In the familial group there was significant correlation mtDNA 1555 homogenicity mutation copies and phenotype (R = 0.341, P = 0.022) and significant correlation existed between mtDNA 1555 heterogenicity mutation copies and phenotype (R = 0.85, P = 0.015) Conclusion There is significant correlation between the mtDNA A1555G mutation copies and the severity of hearing loss.