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보름사공,백정인,이규엽,김언경 대한이비인후과학회 2017 Clinical and Experimental Otorhinolaryngology Vol.10 No.1
Objectives. We aimed to identify the causative mutation for siblings in a Korean family with nonsyndromic hearing loss (HL) and enlarged vestibular aqueduct (EVA). The siblings were a 19-year-old female with bilateral profound HL and an 11-year-old male with bilateral moderately severe HL. Methods. We extracted genomic DNA from blood samples of the siblings with HL, their parents, and 100 controls. We performed mutation analysis for SLC26A4 using direct sequencing. Results. The two siblings were compound heterozygotes with the novel mutation p.I713LfsX8 and the previously described mutation p.H723R. Their parents had heterozygous mono-allelic mutations. Father had p.I713LfsX8 mutation as heterozygous, and mother had p.H723R mutation as heterozygous. However, novel mutation p.I713LfsX8 was not detected in 100 unrelated controls. Conclusion. Both mutations identified in this study were located in the sulfate transporter and anti-sigma factor antagonist domain, the core region for membrane targeting of SulP/SLC26 anion transporters, which strongly suggests that failure in membrane trafficking by SLC26A4 is a direct cause of HL in this family. Our study could therefore provide a foundation for further investigations elucidating the SLC26A4-related mechanisms of HL.
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Genetic analysis of COL11A2 in Korean patients with autosomal dominant non-syndromic hearing loss
김언경,이규엽,김상주,박홍준,사공보름,배승현,오세경,백정인,최재영 한국유전학회 2016 Genes & Genomics Vol.38 No.10
The collagen type XI alpha 2 gene (COL11A2) is associated with autosomal dominant non-syndromic hearing loss (ADNSHL), and all mutations of this gene in ADNSHL are missense mutations. To evaluate its potential as a major causative gene of ADNSHL in the Korean population, we performed genetic analysis of COL11A2 in 75 unrelated Korean patients with ADNSHL. Consequently, 5 non-synonymous variants, 7 synonymous variants, and 6 intronic variants were identified in COL11A2. Among them, a novel variant, p.G829R (c.2485G[C) was found in a patient as a heterozygote. However, pedigree analysis showed this variation was not co-segregated with hearing loss. Previously reported variants p.G230W (c.688G[T) and p.P1422L (c.4265C[T) were discovered in Korean patients. However, these variants were also detected in normal individuals. These results suggest that COL11A2 is not a major causative gene of ADNSHL in the Korean population.
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Molecular analysis of TMC1 gene in the Korean patients with nonsyndromic hearing loss
Hyo‐Kyeong Kim,Yee Hyuk Kim,사공보름,권태준,오세경,Hye‐Jin Lee,Kyu‐Yup Lee,이상흔,김언경 한국유전학회 2011 Genes & Genomics Vol.33 No.2
Hereditary nonsyndromic hearing loss (NSHL) is a highly heterogeneous disorder in humans. Mutations of the transmembrane channel‐like (TMC1) gene have been identified as the genetic cause for both autosomal recessive (DFNB7/11)and autosomal dominant (DFNA36) nonsyndromic hearing loss. To evaluate the spectrum and frequency of mutation(s)caused by TMC1 gene in the Korean population, we have performed sequencing analysis of the PCR products amplified from genomic DNA of each proband in 193 unrelated families showing 30 autosomal dominant and 163 autosomal recessive inheritance patterns. As a result, we identified eight different novel sequence variations for the first time in this study,respectively. However, none of these showed co‐segregation of phenotype in the families. Therefore, our study suggests that the TMC1 gene is not the cause of nonsyndromic hearing loss in the Korean population.
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한국인의 단맛수용체유전자 TAS1R2 다형성분석 및 일배체형 연구
Hye-Jin Lee(이혜진),Jae-Woong Bae(배재웅),Tae-Jun Kwon(권태준),Borum Sagong(사공보름),Un-Kyung Kim(김언경) 한국생명과학회 2010 생명과학회지 Vol.20 No.3
단맛은 인간이 느낄 수 있는 다섯 가지 감각 중 하나로, 열량을 제공하며 식욕을 결정하는데 중요한 요인이다. 인간이 맛물질을 느끼는 민감도 차이에 유전적인 요인이 중요한 역할을 한다는 사실이 알려진 바, 본 연구에서는 한국인 98명을 대상으로 단맛을 결정하는 미각수용체 TAS1R2 유전자에 대해 염기서열분석법을 이용한 단일염기 다형성 종류 및 빈도, 그리고 일배체형 분석을 수행하였다. 그 결과, TAS1R2 유전자로부터 총 12종류의 SNP이 검출되었으며 약 70%는 아미노산 치환을 일으키는 변이로 확인되었다. 특히, 231번째와 950번째 변이는 본 연구를 통해 처음으로 발견된 새로운 것으로 한국인 집단에서 특이적으로 존재하는 SNP일 가능성이 높다고 판단된다. 일배체형 분석결과에 따르면, 발견된 20 종류 일배체형 중 세 가지가 주로 한국인이 가지는 것으로 확인되었다. 본 연구결과 발견된 TAS1R2 유전자의 SNP은 향후 단맛물질을 감지하는 인간의 민감도차이를 결정하는데 유전적 요인으로 작용하는지 알아보는데 중요한 기초자료를 제시해 주리라 생각되며 맞춤형 식단 등 영양유전학 분야에 응용될 수 있을 것이다. Sweetness plays an important role in providing calories and promoting appetite for food. Since it has been known that genetic factor (s) is involved in individual differences in taste sensitivity in humans, this study aimed to examine genetic variations of the TAS1R2 gene, one of the components for tasting sweet compounds, by using DNA sequencing analysis from 98 unrelated Korean subjects. As a result, 12 different single nucleotide polymorphisms (SNPs) were identified in the hTAS1R2 gene and most of them were nonsynonymous. Also, two novel SNPs were found for the first time in this study. It was noted that the frequencies of these SNPs were common in the Korean population. 20 different haplotypes with coding SNPs (cSNPs) were also found in this study. Three out of these haplotypes were common, showing frequencies of > 10%. The repertoire and frequencies of cSNPs and haplotypes in the hTAS1R2 gene will provide information that will help identify a functional ligand receptor common in the Korean population.
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