ArticlePloS one2019
A rapid improved multiplex ligation detection reaction method for the identification of gene mutations in hereditary hearing loss.
Article in PloS one, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 papers.
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13 citing papers in PubMed, 27 citations in OpenAlex.
- Genome-Wide Association Study of Birth Wool Length, Birth Weight, and Head Color in Chinese Tan Sheep Through Whole-Genome Re-Sequencing.Animals : an open access journal from MDPI · 2024Article
- Relationship between SLC6A2 gene polymorphisms and brain volume in Han Chinese adults who lost their sole child.BMC psychiatry · 2024Article
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- HMGCR gene polymorphism is associated with residual cholesterol risk in premature triple-vessel disease patients treated with moderate-intensity statins.BMC cardiovascular disorders · 2023Article
- Effects of environmental and genetic interactions on job burnout in coal miners: interactions between occupational stress, coping styles, andFrontiers in public health · 2023Article
- A capillary electrophoresis-based multiplex PCR assay for expanded carrier screening in the eastern Han Chinese population.NPJ genomic medicine · 2022Article
- Correlation Between Angiotensin Receptor Type 1 Polymorphisms and Atherosclerotic Cerebral Infarction Risk.Pharmacogenomics and personalized medicine · 2022Article
- A multiplex PCR amplicon sequencing assay to screen genetic hearing loss variants in newborns.BMC medical genomics · 2021Article
- Maternal Hypertension-Related Genotypes and Congenital Heart Defects.American journal of hypertension · 2021Article
- Next-generation sequencing-based mutation analysis of genes associated with enlarged vestibular aqueduct in Chinese families.European archives of oto-rhino-laryngology : official journal of the European Federation of Oto-Rhino-Laryngological Societies (EUFOS) : affiliated with the German Society for Oto-Rhino-Laryngology - Head and Neck Surgery · 2020Article
- FKBP5 haplotypes and PTSD modulate the resting-state brain activity in Han Chinese adults who lost their only child.Translational psychiatry · 2020Article
- [Application of PCR reverse dot blot in non-syndromic deafness gene detection].Lin chuang er bi yan hou tou jing wai ke za zhi = Journal of clinical otorhinolaryngology head and neck surgery · 2020Article
- Effects of COMT rs4680 and BDNF rs6265 polymorphisms on brain degree centrality in Han Chinese adults who lost their only child.Translational psychiatry · 2020Article
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10 authors at 2 institutions in 1 country.
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No grant is acknowledged in the PubMed record.
Abstract
Hearing loss (HL) is a common sensory disorder. More than half of HL cases can be attributed to genetic causes. There is no effective therapy for genetic HL at present, early diagnosis to reduce the incidence of genetic HL is important for clinical intervention in genetic HL. Previous studies have identified 111 nonsyndromic hearing loss genes. The most frequently mutated genes identified in NSHL patients in China include GJB2, SLC26A4, and the mitochondrial gene MT-RNR1. It is important to develop HL gene panels in Chinese population, which allow for etiologic diagnosis of both SHL and NSHL. In this study, a total of 220 unrelated Han Chinese patients with bilateral progressive SNHL and 50 unrelated healthy controls were performed Single nucleotide polymorphism (SNP) genotyping using an improved multiplex ligation detection reaction (iMLDR) technique, is to simultaneously detect a total of 32 mutations in ten HL genes, covering all currently characterized mutations involved in the etiology of nonsyndromic or syndromic hearing loss in the Chinese population. The 49 positive samples with known mutations were successfully detected using the iMLDR Technique. For 171 SNHL patients, gene variants were found in 57 cases (33.33%), among which, 30 patients carried mutations in GJB2, 14 patients carried mutations in SLC26A4, seven patients carried mutations in GJB3, and six patients carried mutations in MT-RNR1. The molecular etiology of deafness was confirmed in 12.9% (22/171) of patients carried homozygous variants. These results were verified by Sanger sequencing, indicating that the sensitivity and specificity of the iMLDR technique was 100%. We believe that the implementation of this population-specific technology at an efficient clinical level would have great value in HL diagnosis and treatment.
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