临汾地区特教学校非综合征性耳聋GJB2、PDS及线粒体A1555G基因突变的分析  

The mutation analysis of GJB2,PDS and mitochondrial A1555G gene for non syndromic deafness of special education school in Linfen area

作　　者：郭伟[1] 周永安[2] 张全斌[2] 李鹏丽[2] 郝子琪[2] 马云霞[2] 夏丽 李长文 栗向韶[4] 王湘[4] 

机构地区：[1]山西医科大学研究生学院,太原030001 [2]太原市中心医院中心实验室,太原030009 [3]山西华信瑞安生物科技有限公司 [4]太原市中心医院耳鼻喉科

出　　处：《中国优生与遗传杂志》2014年第9期14-15,41,共3页Chinese Journal of Birth Health & Heredity

摘　　要：目的对临汾地区特教学校152例耳聋患者进行GJB2、PDS及mtDNA 1555位点突变分析,了解该地区耳聋患者的突变情况及分子学病因。方法收集临汾地区152例耳聋患者,PCR扩增患者GJB2基因、PDS基因第19外显子及mtDNA 1555位点所在区段,所得产物进行测序分析。结果 152例非综合征患者共有90例检测到基因突变,突变率为59.2%(90/152)。GJB2基因突变84例,共发现9个突变位点,包括5个多态位点(c.79 G>A、c.283G>A、c.341 A>G、c.368C>A、c.608 T>C)、3个致病位点(c.109 G>A、c.299-300delAT、c.235delC)及1例新发现突变位点c.127G>C。PDS基因第19外显子突变检出c.2168 A>G 3例,c.2107C>G 1例。检出mtDNA 1555A>G突变患者3例,突变率为2.0%(3/152)。结论山西临汾地区耳聋基因突变以GJB2基因突变率最高,为耳聋的早期诊断与治疗提供理论依据。Objective： To analysis mutations of GJB2, PDS and mtDNA 1555 in 152 patients with deafness from special education school Linfen area, investigate mutations and genetic causes of deafness patients. Methods： 152 cases with deafness were selected for the study. The code region of GJB2 gene, the 19th exon of PDS gent and mtDNA 1555 were amplified by polymerase chain reaction （PCR） , then the products were detected by DNA sequencing. Results： 90 cases of gene mutation were detected in 152 patients with non syndromic deafness, the mutation rate was 59.2% （90/152） . 84 cases with GJB2 gene mutation were detected, 9 mutations sites were found, including 5 polymorphic loci （c.79, G〉A, c.283G〉A, c.341 A〉G, c.368 C〉A, c.608 T〉C） , 3 causative loci （c.109 G〉A, c.299-300delAT, c.235de1C） and one new found mutation sites （c.127G〉C） . The 19th exon of PDS gent mutation were detected with c.2168 A〉G 3 cases and c.2107C〉G 1 casts. The mtDNA 1555A〉G mutation were detected in 3 patients, the mutation rate was 2% （3/152） . Conclusion： A highest frequency of GJB2 gene mutations was found in deafness of Linfen, Shanxi Province, and provided a theoretical basis for the early diagnosis and treatment of deafness.

关 键 词：耳聋 基因突变 GJB2 PDS MTDNA 1555 

分 类 号：R764.43[医药卫生—耳鼻咽喉科]