淄博市23689例新生儿耳聋基因筛查结果分析
Genetic Screening of Deafness Gene for 23 689 Newborns
韩佳佳;胡林;刘轶;魏欣;牟凯;
1:淄博市妇幼保健院产前诊断中心
2:淄博市第四人民医院检验科





1 Guo L,Xiang J,Sun L,et al.Concurrent hearing and genetic screening in a general newborn population[J].Hum Genet,2020,139(4):521-530.
2 Wu CC,Tsai CH,Hung CC,et al.Newborn genetic screening for hearing impairment:a population-based longitudinal study [J].Genet Med 2017,19(1):6-12.
3 He X,Li X,Guo Y,et al.Newborn screening of genetic mutations in common deafness genes with bloodspot-based gene chip array[J].Am J Audiol,2018,27(1):57-66.
4 唐俊湘,孙玉秀,王朝红,等.2 363例新生儿4个常见遗传性耳聋基因突变筛查结果分析[J].山东医药,2015,55(32):76-78.
5 Dai P,Huang LH,Wang GJ,et al.Concurrent hearing and genetic screening of 180 469 neonates with follow-up in Beijing,China[J] .Am J Hum Genet,2019,105(4):803-812.
6 Li CX,Qian P,Guo YG,et al.Construction of a multiplex allele-specific PCR-based universal array (ASPUA) and its application to hearing loss screening[J].Human Mutation,2008,29(2):306-314.
7 Hao Z,Fu D,Ming Y,Yang J,et al.Large scale newborn deafness genetic screening of 142,417 neonates in Wuhan,China [J].PLoS One,2018,13(4):e0195740.
8 Yin A,Liu C,Zhang Y,et al.The carrier rate and mutation spectrum of genes associated with hearing loss in South China hearing female population of childbearing age[J].BMC Med Genet,2013,14(2):57-57.
9 Du YT,Huang LH,Cheng XH,et al.Analysis of p.V37I compound heterozygous mutations in the GJB2 gene in Chinese infants and young children[J] .Biosci Trends,2016,10(3):220-226.
10 Wang Q,Zhao Y,Rao S,et al.A distinct spectrum of SLC26A4 mutations in patients with enlarged vestibular aqueduct in China[J].Clinical Genetics,2007,72(3):245-254.
11 Yuan YY,Guo WW,Tang J,et al.Molecular epidemiology and functional assessment of novel allelic variants of SLC26A4 in non-syndromic hearing loss patients with enlarged vestibular aqueduct in China[J].PLoS One,2012,7(11):e49984.
12 Zhang J,Wang P,Han B,et al.Newborn hearing concurrent genetic screening for hearing impairment-a clinical practice in 58,397 neonates in Tianjin,China[J].Int J Pediatr Otorhinolaryngol,2013,77(12):1929-1935.
13 Li XJ.Analysis of the results of combined screening of newborn hearing and deafness related genes[J].The Journal of Medical Theory and Practice,2017,30(9):1273-1275.
14 Huang S,Huang B,Wang G,et al.The relationship between the GJB3 c.538C>T variant and hearing phenotype in the Chinese population[J].Int J Pediatr Otorhinolaryngol,2017,102:67-70.
15 Wu J,Hao ZJ,Fu DG,et al.Mitochondrial mutations associated with aminoglycoside ototoxicity and hearing loss susceptibility identified by meta-analysis [J].J Med Genet,2015,52(2):95-103.
16 Lu J,Li Z,Zhu Y,et al.Mitochondrial 12SrRNA variants in 1 642 Han Chinese pediatric subjects with aminoglycoside-induced and nonsyndromic hearing loss[J].Mitochondrion,2010,10(4):380-390.
17 刘丽益,李维,韩璐好,等.深圳市南山区25 987例新生儿耳聋基因筛查结果分析[J].中国优生与遗传杂志,2018,26(3):75-77.
18 Dai P,Yu F,Han B,et al.GJB2 mutation spectrum in 2 063 Chinese patients with nonsyndromic hearing impairment[J].Journal of Translational Medicine,2009,7(1):1-12.
19 Wang Q,Xiang J,Sun J,et al.Nationwide population genetic screening improves outcomes of newborn screening for hearing loss in China[J].Genet Med,2019,21(10):2231-2238.