摘要
目的通过筛查耳聋基因热点突变：GJB2基因的235delC、SLC26A4基因的IVS72A〉G和线粒体12SrRNA（12S）基因1555A〉G达到快速诊断耳聋患者。方法多重PCR扩增包括GJB2、SLC26A4及j2S基因的3个片段，限制性片段长度多态分析是否存在相应位点的突变。结果200例耳聋患者中，共检测出235delC纯合突变18例，杂合突变18例；IVS72A〉G纯合突变2例，杂合突变13例；1555A〉G突变8例。检测结果均与测序结果相符合。3个热点突变基因的致病单体的检出率为21．7％，基因诊断率为14％。结论应用聚合酶链反应限制性片段长度多态技术检测耳聋患者的热点突变是一种快速、简便、高效、经济的耳聋致病基因筛查的方法。
Objective To develop a rapid genetic diagnosis technique for the patients with hereditary hearing loss by screening hot spots of mutations, namely 235delC of the GJB2 gene, IVST-2A〉G of the SLC26A4 gene, and 1555A〉G of mitochondrial 12S rRNA. Methods Multiple PCR amplification of the three fragments covering the expected mutations in GJB2, SLC26A4 and 12S were carried out and the amplified products were analyzed by restriction fragment length polymorphism （RFLP）. Results Eighteen homozygous and 18 heterozygous 235delC, 2 homozygous and 13 heterozygous IVST-2A〉 G, and 8 homogeneous 155SANG were detected in the 200 patients with hearing loss. All the results were confirmed by sequencing. The detection rate of the three mutant alleles was 21.7% （71/400＋8/200=0.217） and the genetic diagnosis rate was 14%[（18q 2＋8）/200=0. 141. Conclusion It is a convenient, efficient and economical method to screen the hot spots of mutation in the patient with hereditary hearing loss by using PCR-RFLP.
出处
《中华医学遗传学杂志》
CAS
CSCD
北大核心
2009年第5期518-520,共3页
Chinese Journal of Medical Genetics
基金
基金项目：十一五国家科技支撑计划课题（2006BA105A08）
国家自然科学基金（30571021）
