|
|
Gene mutation analysis of a deaf patient and his family members |
YAN Langzhu, LIN Jing, SUN Xiaotong, et al |
|
[4] |
张 涛,张 英,石 磊.常见遗传性耳聋基因的临床应用研究[J].青海医药杂志,2016,46(7):77-80.
|
[1] |
Takuya Y, Shin-ya N, Shin-ichi U, et al. Frequency of mitochondrial mutations in non-syndromic hearing loss as well as possibly responsible variants found by whole mitochondrial genome screening [J]. J Hum Geneti, 2014, 59: 100-106.
|
[5] |
樊 平,叶延程,郝志成,等.武威市新生儿耳聋基因筛查结果分析[J].华南预防医学,2019,45(5):465-467.
|
[2] |
刘亚兰,桑树山,凌 捷,等.PCR-反向点杂交法在非综合征型耳聋基因检测中的应用[J].临床耳鼻咽喉头颈外科杂志,2020,34(2):153-157.
|
[6] |
Michelle A, Simon Y W H, Martyna M, et al. Mitogenomic analysis of a 50-generation chicken pedigree reveals a rapid rate of mitochondrial evolution and evidence for paternal mtDNA inheritance [J]. Biol Lett, 2015, 11(10): 20150561.
|
[3] |
杜一娜,付雪梅,赵 楠.基因芯片法在遗传性耳聋孕妇基因突变位点检测中的应用效果[J].临床合理用药,2019,12(1C):46-48.
|
[7] |
Peng W, Zhong Y, Zhao X Y, et al. Low penetrance of hearing loss in two Chinese families carrying the mitochondrial tRNASer(UCN) mutations [J]. Mol Med Rep, 2020, 22(1): 77-86.
|
[4] |
张 涛,张 英,石 磊.常见遗传性耳聋基因的临床应用研究[J].青海医药杂志,2016,46(7):77-80.
|
[8] |
Yuan H J, Qian Y P, Xu Y J, et al. Cosegregation of the G7444A mutation in the mitochondrial COI/tRNASer(UCN) genes with the 12S rRNA A1555G mutation in a Chinese family with aminoglycoside-induced and nonsyndromic hearing loss [J]. Am J Med Genet A, 2005, 138A: 133-140.
|
[5] |
樊 平,叶延程,郝志成,等.武威市新生儿耳聋基因筛查结果分析[J].华南预防医学,2019,45(5):465-467.
|
[9] |
张 钏,周秉博,张庆华,等.354例耳聋高危儿及39例先天性耳聋患者基因突变分析[J].生殖医学杂志,2020,29(9):1176-1181.
|
[6] |
Michelle A, Simon Y W H, Martyna M, et al. Mitogenomic analysis of a 50-generation chicken pedigree reveals a rapid rate of mitochondrial evolution and evidence for paternal mtDNA inheritance [J]. Biol Lett, 2015, 11(10): 20150561.
|
[10] |
Yan C J, Duanmu X Y, Zeng L, et al. Mitochondrial DNA: distribution, mutations, and elimination [J]. Cells, 2019, 8(4): 379.
|
[7] |
Peng W, Zhong Y, Zhao X Y, et al. Low penetrance of hearing loss in two Chinese families carrying the mitochondrial tRNASer(UCN) mutations [J]. Mol Med Rep, 2020, 22(1): 77-86.
|
[11] |
范文露,唐霄雯,郑斌娇,等.线粒体tRNASer(UCN)突变及其致聋机制的研究[J].中华医学遗传学杂志,2017,34(1):128-132.
|
[8] |
Yuan H J, Qian Y P, Xu Y J, et al. Cosegregation of the G7444A mutation in the mitochondrial COI/tRNASer(UCN) genes with the 12S rRNA A1555G mutation in a Chinese family with aminoglycoside-induced and nonsyndromic hearing loss [J]. Am J Med Genet A, 2005, 138A: 133-140.
|
[12] |
欧启水,陈添彬.线粒体耳聋及其临床表型多样性的分子诊断[J].临床检验杂志,2012,30(10):787-792.
|
[9] |
张 钏,周秉博,张庆华,等.354例耳聋高危儿及39例先天性耳聋患者基因突变分析[J].生殖医学杂志,2020,29(9):1176-1181.
|
[13] |
王 芳,刘星辰,郭玉芬.线粒体DNA突变与遗传性聋[J].听力学及言语疾病杂志,2016,24(4):405-409.
|
[10] |
Yan C J, Duanmu X Y, Zeng L, et al. Mitochondrial DNA: distribution, mutations, and elimination [J]. Cells, 2019, 8(4): 379.
|
[14] |
Liu Q, Liu P, Ding Y, et al. Mitochondrial COI/tRNASer(UCN) G7444A mutation may be associated with aminoglycoside-induced and non-syndromic hearing impairment [J]. Mol Med Rep, 2015, 12: 8176-8178.
|
[11] |
范文露,唐霄雯,郑斌娇,等.线粒体tRNASer(UCN)突变及其致聋机制的研究[J].中华医学遗传学杂志,2017,34(1):128-132.
|
[15] |
Luo S Y, Valencia C A, Zhang J L, et al. Biparental inheritance of mitochondrial DNA in humans [J]. Proc Natl Acad Sci U S A, 2018, 115(51): 13039-13044.
|
[12] |
欧启水,陈添彬.线粒体耳聋及其临床表型多样性的分子诊断[J].临床检验杂志,2012,30(10):787-792.
|
[16] |
Guo Y, Li C G, Sheng Q H, et al. Very low-level heteroplasmy mtDNA variations are inherited in humans [J]. J Genet Genomics, 2013, 40(12): 607-615.
|
[13] |
王 芳,刘星辰,郭玉芬.线粒体DNA突变与遗传性聋[J].听力学及言语疾病杂志,2016,24(4):405-409.
|
[17] |
Lawrence C S, Vilceu B, Marcia M C, et al. Mitochondrial genotype segregation and the bottleneck [J]. Articles, 2002, 3(4): 248-255.
|
[14] |
Liu Q, Liu P, Ding Y, et al. Mitochondrial COI/tRNASer(UCN) G7444A mutation may be associated with aminoglycoside-induced and non-syndromic hearing impairment [J]. Mol Med Rep, 2015, 12: 8176-8178.
|
[18] |
Boris R J, Marcia S W S, Nicholas S, et al. Maternal age effect and severe germ-line bottleneck in the inheritance of human mitochondrial DNA [J]. Proc Natl Acad Sci U S A, 2014, 43(111): 15474-15479.
|
[15] |
Luo S Y, Valencia C A, Zhang J L, et al. Biparental inheritance of mitochondrial DNA in humans [J]. Proc Natl Acad Sci U S A, 2018, 115(51): 13039-13044.
|
[19] |
文 平,蒋 雪.线粒体病[J].生物学教学,2007,3(32):6-8.
|
[16] |
Guo Y, Li C G, Sheng Q H, et al. Very low-level heteroplasmy mtDNA variations are inherited in humans [J]. J Genet Genomics, 2013, 40(12): 607-615.
|
[20] |
巫小倩,张顺华,朱 砺.线粒体DNA异质性[J].中国生物化学与分子生物学报,2017,33(1):11-16.
|
[21] |
Arslan A Z, Peter R W, Marcia S W S, et al. Bottleneck and selection in the germline and maternal age influence transmission of mitochondrial DNA in human pedigrees [J]. Proc Natl Acad Sci U S A, 2019, 116(50): 25172-25178.
|
[17] |
Lawrence C S, Vilceu B, Marcia M C, et al. Mitochondrial genotype segregation and the bottleneck [J]. Articles, 2002, 3(4): 248-255.
|
[22] |
Polovina E S, Parakatselaki M E, Ladoukakis E D. Paternal leakage of mitochondrial DNA and maternal inheritance of heteroplasmy in Drosophila hybrids [J]. Sci Rep, 2020, 10: 2599.
|
[18] |
Boris R J, Marcia S W S, Nicholas S, et al. Maternal age effect and severe germ-line bottleneck in the inheritance of human mitochondrial DNA [J]. Proc Natl Acad Sci U S A, 2014, 43(111): 15474-15479.
|
[23] |
宫 健,卢 瑶,单春华,等.线粒体DNA的异质性[J].中国生物化学与分子生物学报,2015,31(6):575-578.
|
[19] |
文 平,蒋 雪.线粒体病[J].生物学教学,2007,3(32):6-8.
|
[20] |
巫小倩,张顺华,朱 砺.线粒体DNA异质性[J].中国生物化学与分子生物学报,2017,33(1):11-16.
|
[21] |
Arslan A Z, Peter R W, Marcia S W S, et al. Bottleneck and selection in the germline and maternal age influence transmission of mitochondrial DNA in human pedigrees [J]. Proc Natl Acad Sci U S A, 2019, 116(50): 25172-25178.
|
[22] |
Polovina E S, Parakatselaki M E, Ladoukakis E D. Paternal leakage of mitochondrial DNA and maternal inheritance of heteroplasmy in Drosophila hybrids [J]. Sci Rep, 2020, 10: 2599.
|
[23] |
宫 健,卢 瑶,单春华,等.线粒体DNA的异质性[J].中国生物化学与分子生物学报,2015,31(6):575-578.
|
|
|
|