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홍지혜,박형두,최리화,진동규,김재현,기창석,이수연,송정한,김종원 대한진단검사의학회 2015 Annals of Laboratory Medicine Vol.35 No.5
CYP21A2 mutation analysis of congenital adrenal hyperplasia (CAH) is challenging because of the genomic presence of a homologous CYP21A2 pseudogene and the significant incidence of pseudogene conversion and large deletions. The objective of this study was to accurately analyze the CYP21A2 genotype in Korean CAH patients using a combination of complementary methods. Long-range PCR and restriction fragment length polymorphism analyses were performed to confirm valid amplification of CYP21A2 and to detect large gene conversions and deletions before direct sequencing. Multiple ligation-dependent probe amplification (MLPA) analysis was conducted concurrently in 14 CAH-suspected patients and six family members of three patients. We identified 27 CYP21A2 mutant alleles in 14 CAH-suspected patients. The c.293-13A>G (or c.293-13C>G) was the most common mutation, and p.Ile173Asn was the second, identified in 25% and 17.9% of alleles, respectively. A novel frame-shift mutation of c.492delA (p.Glu 164Aspfs*24) was detected. Large deletions were detected by MLPA in 10.7% of the alleles. Mutation studies of the six familial members for three of the patients aided in the identification of haplotypes. In summary, we successfully identified CYP21A2 mutations using both long-range PCR and sequencing and dosage analyses. Our data correspond relatively well with the previously reported mutation spectrum analysis.
잠재적 프로파일 분석을 통한 한국어 단일언어 아동과 한국어-영어 이중언어 아동의 유형 연구
홍지혜,임동선 이화여자대학교 특수교육연구소 2019 특수교육 Vol.18 No.4
Purpose: The results of the standardized tests did not reflect the unique language development of bilingual children raised in various cultures and environments. Thus, it was not appropriate to discriminate between naturally occurring linguistic differences and language disabilities in bilingual children. The purpose of this study was to categorize groups not by their language but by their language ability. Method: An unclassified group of 40 children age five to eight monolingual and bilingual children participated in this study. The groups were identified on the basis of (a) language processing tasks(phonological working memory and processing speed measures); (b) language sample analyses(semantic, grammatical, and word-length measures). The Latent Profile Analysis(LPA) is used to divide subtypes of participants based on their language ability. Results: Four statistically significant subtypes were identified. Type 1 showed low performance overall in language processing and language sample analysis, and Type 2 was superior overall in language processing and language sample analysis. Type 3 had good language processing performance, but average mean word length was low and lexical diversity was high. Type 4 had low level of language processing performance, average mean word length and grammaticality. Conclusion: The results indicated that classifying children simply into two groups, those with and without language impairment or those who speaks Korean or English may lead to misidentification of language impairment. There was a unique subtype of bilingual children, who showed differences in performance in terms of language processing ability, grammatical errors, and lexical diversity. Thus, it was necessary to consider quantitative and qualitative measures such as lexical diversity and grammaticality in bilingual children’s language sample. 연구목적: 한국어-영어 이중언어 아동의 수는 매년 증가하고 있으며, 이들이 가진 말-언어적 문제점을 파악하기 위한 표준화된 검사는 한계가 존재한다. 말-언어 자료를 바탕으로 언어능력을 파악하고 하부 유형의 특징을 파악함으로써 이중언어 아동이 보이는 언어차이(language difference)를 알아보고자 한다. 연구방법: 생활연령 5;6-7;10세 한국어 단일언어 아동(20명)과 한국어-영어 이중언어 아동(20명)을 대상으로 언어처리 과제(음운작업 기억, 음운처리 속도)와 언어표본 분석(평균발화길이, 어휘다양도, 문법오류)을 실시하였다. 잠재적 프로파일 분석(LPA)를 통해 분류 가능한 잠재적 유형의 수와 특징을 파악하였다. 연구결과: 통계적으로 유의한 하위 유형을 4가지로 분류할 수 있었다. 또한 비슷한 성향을 보이는 하부유형의 언어적 특징을 설명할 수 있었다. 결론: 언어처리와 언어표본 과제의 수행력을 기반으로 잠재적 프로파일 분석(LPA)을 실시했을 때, 언어적 능력을 기반으로 새로운 하위 유형을 구분 할 수 있다. 이에 이중언어 아동의 언어평가에 있어 언어처리 능력뿐만 아니라 아동이 사용하는 두 개 언어의 양적․질적 요소를 함께 고려해야 할 필요가 있다.