Cordblood-Based High-Throughput Screening for Deafness Gene of 646 Newborns in Jinan Area of China

Ding-Li Chen; Gen-Dong Yao; Li-Li Guo; Xiao-Fang Zhang; Zhi-Ming Yang; Cai-Xia Sun; Shou-Xia Li; Su-Bin Zhao; Hai-Qin Feng; Li-Li Ping

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자료유형: 학술저널

저자정보: Ding-Li Chen Gen-Dong Yao Li-Li Guo Xiao-Fang Zhang Zhi-Ming Yang Cai-Xia Sun Shou-Xia Li Su-Bin Zhao Hai-Qin Feng Li-Li Ping

저널정보: 대한이비인후과학회 Clinical and Experimental Otorhinolaryngology Clinical and Experimental Otorhinolaryngology 제8권 제3호

발행연도: 2015.1

수록면: 211 - 217 (7page)

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Objectives. Infants with slight/mild or late-onset hearing impairment might be missed in universal newborn hearing screening (UNHS). We identified the mutation hot spot of common deaf gene in the newborns in Jinan area population by screening the mutation spot with neonate cord blood, in order to make clear whether the neonate cord blood for screening is feasible. Methods. Six hundred and forty-six newborns were subjected to both UNHS and genetic screening for deafness by using neonate cord blood. The newborn genetic screening targeted four deafness-associated genes, which were commonly found in the Chinese population including gap junction beta-2 protein (GJB2), gap junction beta-3 protein (GJB3), solute carrier family 26 member 4 (SLC26A4), and mtDNA 12S rRNA. The most common 20 spot mutations in 4 deaf genes were detected by MassARRAY iPLEX platform and mitochondrial 12S rRNA A1555G and C1494T mutations were sequenced using Sanger sequencing. Results. Among the 646 newborns, 635 cases passed the UNHS and the other 11 cases (1.7%) did not. Of the 11 failures, two cases were found to carry homozygous GJB2 p.R143W pathogenic mutation, one case was found to have heterozygous GJB2 235delC mutation, and another one case carried heterozygous GJB3 p.R180X pathogenic mutation. Six hundred and thirty-five babies passed the newborn hearing screening, in which 25 babies were identified to carry pathogenic mutations, including 12 heterozygotes (1.9%) for GJB2 235delC, eight heterozygotes (1.3%) for SLC26A4 IVS7-2A>G, one heterozygote (0.2%) for p.R409H, two homozygotes (0.3%) for m.1494C>T, and two homozygotes (0.3%) for m.1555A>G. Conclusion. Newborn genetic screening through the umbilical cord blood for common deafness-associated mutations may identify carriers sensitive to aminoglycoside antibiotic, and can effectively prevent or delay hearing loss occurs.

#Deafness #Cord Blood #Genes #High-Throughput Nucleotide Sequencing

참고문헌 (28)

참고문헌 신청

Pollak A / 2007 / M34T and V37I mutations in GJB2 associated hearing impairment: evidence for pathogenicity and reduced penetrance / Am J Med Genet A 143(21):2534~2543

Park HJ / 2003 / Origins and frequencies of SLC26A4 (PDS) mutations in east and south Asians: global implications for the epidemiology of deafness / J Med Genet 40(4):242~248

Miyagawa M / 2014 / Deafness Gene Study Consortium. Mutation spectrum and genotype-phenotype correlation of hearing loss patients caused by SLC26A4 mutations in the Japanese: a large cohort study / J Hum Genet 59(5):262~268

Choi BY / 2009 / Hypo-functional SLC26A4 variants associated with nonsyndromic hearing loss and enlargement of the vestibular aqueduct: genotype-phenotype correlation or coincidental polymorphisms? / Hum Mutat 30(4):599~608

Yuan Y / 2012 / Common molecular etiologies are rare in nonsyndromic Tibetan Chinese patients with hearing impairment / PLoS One 7(2):e30720

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