闫兰竹, 林静, 孙晓彤, 李东坤, 侯兵兵, 乔顺义. 一例耳聋患者及其家庭成员的基因突变分析[J]. 武警医学, 2024, 35(2): 161-164.
YAN Langzhu, LIN Jing, SUN Xiaotong, et al . Gene mutation analysis of a deaf patient and his family members. Med. J. Chin. Peop. Armed Poli. Forc., 2024, 35(2): 161-164.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.