A rapid improved multiplex ligation detection reaction method for the identification of gene mutations in hereditary hearing loss.
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 i...
| Main Authors: | , , , , , , , , , |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
Public Library of Science (PLoS)
2019-01-01
|
| Series: | PLoS ONE |
| Online Access: | https://doi.org/10.1371/journal.pone.0215212 |
| _version_ | 1798032733350395904 |
|---|---|
| author | Yalan Liu Chang Hu Chang Liu Deyuan Liu Lingyun Mei Chufeng He Lu Jiang Hong Wu Hongsheng Chen Yong Feng |
| author_facet | Yalan Liu Chang Hu Chang Liu Deyuan Liu Lingyun Mei Chufeng He Lu Jiang Hong Wu Hongsheng Chen Yong Feng |
| author_sort | Yalan Liu |
| collection | DOAJ |
| description | 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. |
| first_indexed | 2024-04-11T20:17:30Z |
| format | Article |
| id | doaj.art-ea8271589eb245ffadce8f072e2672e7 |
| institution | Directory Open Access Journal |
| issn | 1932-6203 |
| language | English |
| last_indexed | 2024-04-11T20:17:30Z |
| publishDate | 2019-01-01 |
| publisher | Public Library of Science (PLoS) |
| record_format | Article |
| series | PLoS ONE |
| spelling | doaj.art-ea8271589eb245ffadce8f072e2672e72022-12-22T04:04:54ZengPublic Library of Science (PLoS)PLoS ONE1932-62032019-01-01144e021521210.1371/journal.pone.0215212A rapid improved multiplex ligation detection reaction method for the identification of gene mutations in hereditary hearing loss.Yalan LiuChang HuChang LiuDeyuan LiuLingyun MeiChufeng HeLu JiangHong WuHongsheng ChenYong FengHearing 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.https://doi.org/10.1371/journal.pone.0215212 |
| spellingShingle | Yalan Liu Chang Hu Chang Liu Deyuan Liu Lingyun Mei Chufeng He Lu Jiang Hong Wu Hongsheng Chen Yong Feng A rapid improved multiplex ligation detection reaction method for the identification of gene mutations in hereditary hearing loss. PLoS ONE |
| title | A rapid improved multiplex ligation detection reaction method for the identification of gene mutations in hereditary hearing loss. |
| title_full | A rapid improved multiplex ligation detection reaction method for the identification of gene mutations in hereditary hearing loss. |
| title_fullStr | A rapid improved multiplex ligation detection reaction method for the identification of gene mutations in hereditary hearing loss. |
| title_full_unstemmed | A rapid improved multiplex ligation detection reaction method for the identification of gene mutations in hereditary hearing loss. |
| title_short | A rapid improved multiplex ligation detection reaction method for the identification of gene mutations in hereditary hearing loss. |
| title_sort | rapid improved multiplex ligation detection reaction method for the identification of gene mutations in hereditary hearing loss |
| url | https://doi.org/10.1371/journal.pone.0215212 |
| work_keys_str_mv | AT yalanliu arapidimprovedmultiplexligationdetectionreactionmethodfortheidentificationofgenemutationsinhereditaryhearingloss AT changhu arapidimprovedmultiplexligationdetectionreactionmethodfortheidentificationofgenemutationsinhereditaryhearingloss AT changliu arapidimprovedmultiplexligationdetectionreactionmethodfortheidentificationofgenemutationsinhereditaryhearingloss AT deyuanliu arapidimprovedmultiplexligationdetectionreactionmethodfortheidentificationofgenemutationsinhereditaryhearingloss AT lingyunmei arapidimprovedmultiplexligationdetectionreactionmethodfortheidentificationofgenemutationsinhereditaryhearingloss AT chufenghe arapidimprovedmultiplexligationdetectionreactionmethodfortheidentificationofgenemutationsinhereditaryhearingloss AT lujiang arapidimprovedmultiplexligationdetectionreactionmethodfortheidentificationofgenemutationsinhereditaryhearingloss AT hongwu arapidimprovedmultiplexligationdetectionreactionmethodfortheidentificationofgenemutationsinhereditaryhearingloss AT hongshengchen arapidimprovedmultiplexligationdetectionreactionmethodfortheidentificationofgenemutationsinhereditaryhearingloss AT yongfeng arapidimprovedmultiplexligationdetectionreactionmethodfortheidentificationofgenemutationsinhereditaryhearingloss AT yalanliu rapidimprovedmultiplexligationdetectionreactionmethodfortheidentificationofgenemutationsinhereditaryhearingloss AT changhu rapidimprovedmultiplexligationdetectionreactionmethodfortheidentificationofgenemutationsinhereditaryhearingloss AT changliu rapidimprovedmultiplexligationdetectionreactionmethodfortheidentificationofgenemutationsinhereditaryhearingloss AT deyuanliu rapidimprovedmultiplexligationdetectionreactionmethodfortheidentificationofgenemutationsinhereditaryhearingloss AT lingyunmei rapidimprovedmultiplexligationdetectionreactionmethodfortheidentificationofgenemutationsinhereditaryhearingloss AT chufenghe rapidimprovedmultiplexligationdetectionreactionmethodfortheidentificationofgenemutationsinhereditaryhearingloss AT lujiang rapidimprovedmultiplexligationdetectionreactionmethodfortheidentificationofgenemutationsinhereditaryhearingloss AT hongwu rapidimprovedmultiplexligationdetectionreactionmethodfortheidentificationofgenemutationsinhereditaryhearingloss AT hongshengchen rapidimprovedmultiplexligationdetectionreactionmethodfortheidentificationofgenemutationsinhereditaryhearingloss AT yongfeng rapidimprovedmultiplexligationdetectionreactionmethodfortheidentificationofgenemutationsinhereditaryhearingloss |