CAJ | 학술논문

目的通过耳聋基因芯片诊断技术,探讨耳聋易感基因筛选在聋哑人家庭优生优育中的意义.方法 52对聋人夫妻来自长春市某聋哑社区,平均((x)±s)年龄(58.3±6.7)岁.在受检者知情同意情况下采集外周静脉血3 ml,分离基因组DNA,利用遗传性耳聋基因检测芯片对GJB2、SLC26A4、GJB3和线粒体DNA等常见耳聋基因中的9个突变位点进行检测.通过直接测序法验证基因芯片结果.以50名年龄相仿的健康人为对照.结果所有聋人夫妻纯音测听检查均为双耳非综合征型感音神经性聋.104例患者中,有32例出现GJB2基因突变,占耳聋总人数的30.7%(32/104),包括35delG、176del16、235delC、299delAT;其中18例存在235delC突变,占所有GJB2等位基因突变的59.1%(18/32).SLC26A4基因纯合突变4例,杂合突变3例,均为IVS7-2 A>G突变.问卷调查和基因检测分析发现,52对聋人夫妻,有4个家庭后代出现耳聋成员,占聋人家庭总数的7.6%(4/52).夫妻双方均携带相同基因突变,其子女均发生耳聋,耳聋发生风险为100%.基因芯片的结果与测序方法的结果完全一致.结论聋哑家庭再生育聋人的风险较高,通过基因芯片技术进行耳聋易感基因检测,可避免明确病因的耳聋家庭出现新的耳聋病例.
목적 통과이롱기인심편진단기술,탐토이롱역감기인사선재롱아인가정우생우육중적의의.방법 52대롱인부처래자장춘시모롱아사구,평균((x)±s)년령(58.3±6.7)세.재수검자지정동의정황하채집외주정맥혈3 ml,분리기인조DNA,이용유전성이롱기인검측심편대GJB2、SLC26A4、GJB3화선립체DNA등상견이롱기인중적9개돌변위점진행검측.통과직접측서법험증기인심편결과.이50명년령상방적건강인위대조.결과 소유롱인부처순음측은검사균위쌍이비종합정형감음신경성롱.104례환자중,유32례출현GJB2기인돌변,점이롱총인수적30.7%(32/104),포괄35delG、176del16、235delC、299delAT;기중18례존재235delC돌변,점소유GJB2등위기인돌변적59.1%(18/32).SLC26A4기인순합돌변4례,잡합돌변3례,균위IVS7-2 A>G돌변.문권조사화기인검측분석발현,52대롱인부처,유4개가정후대출현이롱성원,점롱인가정총수적7.6%(4/52).부처쌍방균휴대상동기인돌변,기자녀균발생이롱,이롱발생풍험위100%.기인심편적결과여측서방법적결과완전일치.결론 롱아가정재생육롱인적풍험교고,통과기인심편기술진행이롱역감기인검측,가피면명학병인적이롱가정출현신적이롱병례.
Objective To explored the significance of screening the gene mutations of deafness related in deaf-mute ( deaf & dumb) family using DNA microarray. Methods Total of 52 couples of deafmute were recruited from Changchun deaf-mute community. With an averageage of (58. 3 ±6. 7) years old ((x) ± s) . Blood samples were obtained with informed consent. Their genomic DNA was extracted from peripheral blood and PCR was performed. Nine of hot spot mutations in four most common deafness pathologic gene were examined with the DNA microarray, including GJB2, GJB3,PDS and mtDNA 12SrRNA genes. At the same time, the results were verified with the traditional methods of sequencing. Fifty of normal people served as a control group. Results All patients were diagnosed non-syndromic sensorineural hearing loss by subjective pure tone audiometry. Thirty-two of 104 cases appeared GJB2 gene mutation (30. 7% ) , the mutation sites included 35delG,176del16,235delC and 299delAT. Eighteen of 32 cases of GJB2 mutations were 235delC ( 59. 1% ) . Seven of 104 cases appeared SLC26A4 gene IVS7-2 A > G mutation. Questionnaire survey and gene diagnosis revealed that four of 52 families have deaf offspring (7. 6% ). When a couple carries the same gene mutation, the risk of their children deafness was 100%.The results were confirmed with the traditional methods of sequencing. Conclusions There is a high risk of deafness if a deaf-mute family is planning to have a new baby. It is very important and helpful to avoid deaf newborns again in deaf-mute family by DNA microarray.