江苏省部分地区孕前人群耳聋基因微阵列芯片筛查及遗传咨询
Pre-pregnancy Population Screening of Deafness Gene Micro-array and Genetic Consultation in Jiangsu
黄丽丽;吴玉璘;林宁;石慧;姜志欣;王丽娟;陈伟;封婕;査树伟;许豪勤;
1:江苏省计划生育科学技术研究所
1刘玉和,袁慧军.遗传性聋的基因诊断与遗传咨询[J].中华耳鼻咽喉头颈外科杂志,2013,48:1051.
2 李玲,麦明琴,曾玉坤,等.36例遗传性耳聋的产前诊断分析[J].中国产前诊断杂志,2015,7:43.
3 戴林桐,卿丽华,孙丹洋,等.基因芯片法检测72例非综合征性耳聋患者基因突变的研究[J].四川医学,2016,37:602.
4 方媛,顾茂胜,王传霞,等.基因芯片检测技术与基因测序技术在遗传性耳聋产前诊断中的联合应用[J].山东医药,2015,55:107.
5 杨雪,吴忠琴,郑琳,等.耳聋基因检测在孕前筛查中的应用[J].中国妇幼保健,2017,32:548.
6 郝冬梅,孟培,曹东华,等.1640例正常孕妇常见遗传性耳聋基因携带者筛查[J].中国妇幼保健,2017,32:319.
7 查树伟,查佶,许豪勤,等.孕前耳聋基因筛查和耳聋预防[J].中国计划生育学杂志,2016,24:274.
8 袁永一,戴朴.聋病基因筛查和耳聋防控新手段[J].中国耳鼻咽喉头颈外科,2015,22:57.
9 Rabioner R,Zelante L,Lopez-Bigas N,et al.Molecular basis of childhood deafness resulting from mutations in the GJB2(connexin 26)gene[J].Hum Genet,2000,106:40.
10 戴朴,于飞,韩冰,等.中国不同地区和种族重度感音神经性聋群体热点突变的分布和频率研究[J].中华耳鼻咽喉头颈外科杂志,2007,42:804.
11 Walsh T,Shahian H,Elkan-Miller T,et al.Whole exome sequencing and homozygosity mapping identify mutation in the cell polarity protein GPSM2as the cause of nonsyndromic hearing loss DFNB82[J].Am J Hum Gent,2010,87:90.
12 Kim HJ,Park CH,Kim HJ,et al.Sequence variations and haplotypes of the GJB2gene revealed by resequencing of 192chromosimes from the general population in Korea[J].Clin Exp Otorhinolaryngol,2010,3:65.
13 Maeda Y,Fukushima K,Nishizaki K,et al.In vitro and in vivo suppression of GJB2expression by RNA interference[J].Hum Mol Genet,2005,14:1641.
14 石之膦,王沙燕,张阮章.非综合征型感音神经性聋患儿GJB2基因突变分析[J].中国医学创新,2016,13:21.
15 Dai P,Yu F,Han B,et al.GJB2mutation spectrum in 2063Chinese patients with nonsyndromic hearing impairment[J].Transl Med,2009,7:1.
16 Wu CC,Lee YC,Chen PJ,et al.Predominance of genetic diagnosis and imaging results as predictors in determining the speech percept in performance outcome after cochlear implantation in children[J].Arch Pediatr Adolesc Med,2008,162:269.
17 张笑千,王睿,刘畅,等.SLC26A4基因突变所致遗传性耳聋患者突变类型研究[J].中国全科医学,2016,19:979.
18 Ji YB,Han DY,Lan L,et al.Molecular epidemiological analysis of mitochondrial DNA 12SrRNA,A1555G,GJB2,and SLC26A4mutations in sporadic outpatients with nonsyndromic sensorineural hearing loss in China[J].Acta Otolaryngol,2011,131:124.
19 杜玉,刘勇智.与非综合征型聋相关缝隙连接蛋白31及线粒体12SrRNA基因突变[J].国际耳鼻咽喉头颈外科杂志,2016,40:325.
20 Ding Y,Leng J,Fan F,et al.The role of mitochondrial DNA mutations in hearing loss[J].Biochem Genet,2013,51:588.
21 王帅,魏钦俊,范燚,等.耳聋基因GJB3c.538C>T突变致病性效应的初步研究[J].医学分子生物学杂志,2013,10:10.
22 Huang SS,Huang BQ,Wang GT,et al.The relationship between the GJB3c.538C>T variant and hearing phenotype in Chinese population[J].International Journal of Pediatric Otorhinolarybgology,2017,102:67.
23 刘璟,牟书瑜,付敏,等.常见耳聋基因在大连地区语前聋与耳聋高危人群中检测分析[J].听力学及言语疾病杂志,2016,29:545.
24 American Collega of Medical Genetics and Genomics.Genetic evaluation guidelines for the etiologic diagnosis of congenital hearing loss.Genetic elvaluation of congenital hearing loss expert panel.ACMG statement[J].Genet Med,2002,4:162.
25 韩光宇,徐湛,李全双,等.DNA微阵列芯片法检测遗传性耳聋基因[J].现代检验医学杂志,2016,31:47.