Analysis of mutation spectrum of common deafness-causing genes in Hakka newborns in southern China by semiconductor sequencing

Zhao, Pingsen; Lin, Lei; Lan, Liubing

doi:10.1097/md.0000000000012285

Cited by 4 publications

(4 citation statements)

References 40 publications

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“…Actually, c.IVS7-2 A>G mutation in SLC26A4 gene is the main mutation site of the large vestibular aqueduct syndrome in the Chinese population. This study discovers that the detection rate of c.IVS7-2 A>G mutation in SLC26A4 gene is the highest (1.53%), followed by c. 2168A> G, which is the same as the results in domestic literature [ 10 ]. Furthermore, studies have revealed that there are significant regional and ethnic differences in the site mutation of SLC26A4 gene.…”

Section: Discussionsupporting

confidence: 81%

“…Thus, with cost-effective and rapid turnaround, the screening of large populations is feasible. Here, it should be noticed that the next-generation sequencing provides a stronger solution [ 10 , 14 ],whereas organizing massive population genetic screening is challenging, which also increases interpretation burden. In addition, the microarray platform shows excellent detection sensitivity to the heteroplasmic mitochondrial variants.…”

Section: Discussionmentioning

confidence: 99%

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Concurrent Hearing and Genetic Screening among Newborns in Ningbo, China

Guomei

Lu-yan

Dai

et al. 2022

Computational and Mathematical Methods in Medicine

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Objective. To detect the carrier rates of deafness gene variants in populations in Ningbo and analyze the risk of hereditary hearing loss through concurrent hearing and genetic screening tests. Methods. Two thousand one hundred and seventy-four newborns were enrolled from November 2018 to August 2019. All subjects underwent hearing screening and newborn deafness genetic screening with 15 variants in 4 genes, and the positive sites were simultaneously verified by sequencing. Results. The total carrier rate of genetic variants in Ningbo reached 4.32%, when GJB2 c.235delC was the variant with the highest prevalence (2.12%), approximately accounting for 48.9% of the total carrier frequency. The carrier frequency of SLC26A4 c.919-2A>G was 0.87%, while the most common variant in mitochondrial DNA (mtDNA) MT-RNR1 gene was m.1555A>G, and its carrier frequency was 0.184%. In the OAE testing, 92 newborns passing hearing screening were tested positively for variants in 4 genes, and 2 of 42 newborns who failed in the first hearing test were found to mutate in 4 genes. Conclusion. Herein, the results concerning the carrier rates for deafness gene mutations of Ningbo population are reported. Our study is beneficial to the insight into the deafness genomic epidemiology for deafness genes in Ningbo population and provides the reference for healthcare in Ningbo.

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Section: Discussionsupporting

confidence: 81%

Section: Discussionmentioning

confidence: 99%

Concurrent Hearing and Genetic Screening among Newborns in Ningbo, China

Guomei

Lu-yan

Dai

et al. 2022

Computational and Mathematical Methods in Medicine

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“…In this study, the chip-based SNP genotyping method was utilized in the detection of hereditary hearing-loss. Fifteen common mutations that cover over 80% of hereditary hearing-loss in China were chosen to construct a rapid screening tool for newborn babies. − The specificity and sensitivity of the chip were carefully examined.…”

Section: Results and Discussionmentioning

confidence: 99%

A Microfluidic-Based SNP Genotyping Method for Hereditary Hearing-Loss Detection

Lü

Shan

et al. 2019

Anal. Chem.

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The genotyping of SNPs (single nucleotide polymorphisms) is a prerequisite for the analysis of many genetic diseases, including hereditary hearing-loss. However, the existing methods for SNP detection suffer from a long detection period, tedious operation, and a high risk of carryover contamination. To address these challenges, a microfluidic chip is constructed for rapid and efficient SNP genotyping by dividing the sample into many independent chambers for Kompetitive Allele Specific PCR in this study. Using this strategy, multiple detection can be easily accomplished and the challenge for the establishment of multiplex PCR is fundamentally overcome. The entire detection can be finished within 2 h in a fully sealed manner with this method, which is quite simple compared to SNaPshot and MassArray. After assessment of the basic performance, this chip was applied to screen 15 mutations, including SNPs and InDels (insertion-deletion markers), that can cover more than 80% of cases of hereditary hearing-loss in China. Over 40 clinical samples were analyzed with this microfluidic chip for SNP genotyping, and the results are consistent with that obtained by Sanger sequencing, demonstrating its practicability and potential in the application of genetic disease detection.

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“…Hereditary hearing loss mainly involves four types: autosomal recessive inheritance (approximately 80%), autosomal dominant inheritance (approximately 15–20%), mitochondrial inheritance (approximately 1%) and sex-linked inheritance (approximately 1%) [ 4 ]. Based on a molecular epidemiological survey of deafness in China, GJB2, GJB3, SLC26A4 and mitochondrial 12S rRNA are the most universal deafness genes in Chinese [ 5 , 6 ]. The hereditary hearing loss resulting from GJB2 and SLC26A4 follows autosomal recessive inheritance.…”

Section: Introductionmentioning

confidence: 99%

Genetic screening of common genetic deafness in 60,391 women of childbearing age and intervention of birth defects

et al. 2022

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IntroductionTo analyze the carrying rate of common deafness gene variants in women of childbearing age in Weihai, and to probe into the feasibility of carrying out genetic screening for common genetic deafness in women of childbearing age to prevent deafness and birth defects via providing genetic counseling and follow-up services for high-risk families.Material and methodsIn total 60,391 pre-pregnancy/early-gestation women who received treatment in second-level or above hospitals in Weihai from February 2017 to December 2019 were selected. Venous or peripheral blood was collected to make dried blood slices on filter paper to extract genomic DNA, and high-throughput sequencing was applied to detect 20 variant sites in 4 common deafness genes (GJB2, GJB3, SLC26A4 and mitochondrial 12S rRNA) in the Chinese population. The spouses of women with deafness gene variants were sequenced.ResultsIn total 3,761 carriers with deafness gene variants were detected in 6,0391 women of childbearing age, with a carrier rate of 6.2%. Among them, 1,739 cases (2.88%) only carried GJB2 pathogenic variants, 1,553 cases (2.58%) only carried SLC26A4 pathogenic variants, 300 cases (0.5%) only carried GJB3 variants, and 125 cases (0.2%) carried mitochondrial drug-sensitive gene variant.ConclusionsThis screening model will greatly reduce the birth rate of children with hearing disabilities and is an effective way to prevent newborn with deafness.

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Analysis of mutation spectrum of common deafness-causing genes in Hakka newborns in southern China by semiconductor sequencing

Cited by 4 publications

References 40 publications

Concurrent Hearing and Genetic Screening among Newborns in Ningbo, China

Concurrent Hearing and Genetic Screening among Newborns in Ningbo, China

A Microfluidic-Based SNP Genotyping Method for Hereditary Hearing-Loss Detection

Genetic screening of common genetic deafness in 60,391 women of childbearing age and intervention of birth defects

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