全外显子组测序,计算机模拟和功能研究证实了 GJB2 突变 p. Cys169Tyr 与耳聋的关联, 并提示了 TMEM59 基因在听力过程中的作用.
关键词: ARNSHL, autosomal recessive non-syndromic hearing loss Actb, Actin beta BAM, Binary Alignment Map BWA, Burrows-Wheeler Aligner C1QTNF9, C1q and TNF related 9 Cx26, Connexin 26 ESRRAP2, Estrogen-Related Receptor Alpha Pseudogene 2 GJB2 gene GJB2, Gap Junction Protein Beta 2 HHLA1, HERV-H LTR-Associating 1 HL, Hearing loss KCNQ3, Potassium Voltage-Gated Channel Subfamily Q Member 3 Missense mutation NGS, next generation sequencing NSHL, Non-syndromic hearing loss Non-syndromic hearing loss PROVEAN, Protein Variation Effect Analyzer PolyPhen-2, Polymorphism Phenotyping v2 RFLP, restriction fragment length polymorphism ROH, runs of homozygosity RT-PCR, reverse transcription PCR RT-qPCR, quantitative reverse transcription PCR SAM, Sequence Alignment/Map SIFT, Sorting Intolerant From Tolerant SJL, Swiss Jim Lambert SPATA13, Spermatogenesis Associated 13 ST3GAL1, ST3 Beta-Galactoside Alpha-2,3-Sialyltransferase 1 TMEM59, Transmembrane Protein 59 UAE, United Arab Emirates VariMAT, Variation and Mutation Annotation Toolkit WES, Whole exome sequencing Whole exome sequencing dpSNP, Single Nucleotide Polymorphism Database gEAR, gene Expression Analysis Resource gnomAD, genome aggregation database qPCR, quantitative PCR
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DOI:10.1016/j.sjbs.2021.04.036
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