摘要
目的 :探讨国人无综合征性耳聋 ( NSD)患者的线粒体 DNA 744 5 A→ G( m t DNA744 5 A→ G)突变的发生情况。方法 :对 32个 NSD家系 12 8例和 135例散发的 NSD患者 ,10 0例正常人 ,以 PCR法检测 mt DNA 744 5 A→ G突变情况。结果 :全部受检者无 mt DNA744 5 A→ G突变发生。结论 :国人 NSD患者的 m t DNA744 5 A→ G突变的发生率较低 ,且明显低于 mt DNA15 5 5 A→
Objective:To study the Mitochondrial DNA 7445 A→G mutation in nonsyndromic deafness patients in chinese population.Method:Polymerase chain reaction and restriction fragment length polymorphism (PCR RFLP) were used to screen the mitochondrial DNA 7445 A→G mutation among 128 nonsyndromic deafness individuals from 32 pedigrees,135 sporadic nonsyndromic deafness patients and 100 normal subjects.Result:The 7445 A→G mutation did not appear in the experiment.Conclusion: Incidence of the mitochondrial 7445 A→G mutation was lower than that of mtDNA 1555 A→G mutation in nonsyndronic deafness patients in China.
出处
《临床耳鼻咽喉科杂志》
CSCD
2000年第4期177-178,共2页
Journal of Clinical Otorhinolaryngology
