分类号:R714.53
出版年·卷·期(页码):2017·9·第2期(22-25)
DOI:
10.13470/j.cnki.cjpd.2017.02.005
-----摘要:-------------------------------------------------------------------------------------------
目的 探讨针对孕期耳聋基因突变携带者配偶行相应基因测序在降低出生缺陷中的意义。方法 采用遗传性耳聋基因芯片检测试剂盒对广东地区2003例听力正常且无耳聋家族史的孕妇进行GJB2、SLC26A4、GJB3和mtDNA12S rRNA这4个耳聋相关基因的9个致聋突变位点检测;对检出的耳聋基因携带者丈夫进行耳聋基因芯片检测和相应基因测序,双方检测发现为同一耳聋基因突变携带者的孕妇在知情同意的前提下再对其胎儿进行耳聋基因产前诊断。结果 检出孕妇携带者103例,检出率5.14%。这103例携带者的丈夫中检出同样为相应基因的携带者6例, 其中SLC26A4基因杂合突变与GJB2基因杂合突变携带者各3例。6对夫妇在充分告知和知情同意的前提下通过羊水穿刺进行胎儿耳聋基因产前诊断,1例胎儿确诊为GJB2基因c.109 G>A杂合突变携带者,1例为GJB2基因c.235delC纯合突变患者,1例为SLC26A4基因IVS7-2A>G/c.2086 C>T双杂合突变患者,还有1例为GJB2基因c.511_512 ins AACG杂合携带者,另有2例为正常基因型。结论 在听力正常孕妇中使用基因芯片进行耳聋基因筛查,检出耳聋基因携带者,然后对其丈夫进行耳聋基因筛查和相应基因序列分析,针对双方为同一基因治病突变携带者的夫妇进行相应基因的产前基因诊断,可以有效降低先天性耳聋患儿的出生。
-----英文摘要:---------------------------------------------------------------------------------------
Objective To study the significance of the gene sequencing for the husbands of the gene mutation carriers of deafness during pregnancy in the decrease of birth defects. Methods Genomic DNA extracted from 2003 normal hearing pregnant women of Guangdong area were subjected to screen for hot spot mutations in the GJB2、GJB3、SLC26A4 and mtDNA 12S rRNA gene. Array screen and related gene sequence were done for the mutation carriers’ husbands. If couple were the same gene mutation carriers,prenatal diagnosis was used. Results A total of 103 pregnant women(5.14%)were found gene mutation carriers. There were 6 husbands have the same gene mutation with their wife. Prenatal diagnosis confirmed two gene mutation fetus patients, two mutation carriers and two normal fetuses. Conclusions It’s an effective method to decrease the born of deaf children through deafness genes mutation carriers screening of pregnant women.
-----参考文献:---------------------------------------------------------------------------------------
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曾玉坤,刘玲,黄伟伟,丁红珂,杜丽,张彦.针对孕期耳聋基因突变携带者配偶行相应基因测序在降低出生缺陷中的意义研究.中国产前诊断杂志,2017,9(2):22-25.
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