• Clinical and Experimental Pediatrics
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• 제48권11호
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• pp.1252-1255
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• 2005

TBG 결핍증은 X 염색체 장완의 TBG 유전자의 돌연변이에 의해서 발생하며, 낮은 총 $T_4$와총$T_3$, 정상 유리 $T_4$와 유리 $T_3$, 정상 TSH 농도를 특징으로 한다. 혈청 티록신글로불린 농도에 따라 완전 TBG 결핍증과 부분 TBG 결핍증으로 나눌 수 있으며, 적절하게 진단하지 못하면 불필요한 검사나 치료의 요인이 될 수 있다. 저자들의 완전 TBG 결핍증으로 진단된 2명의 남아에 대하여 TBG 유전자 분석을 시행하였다. 대상아들은 신생아 선별검사에서 측정된 낮은 총 $T_4$ 농도 때문에 내원하였다. 진찰 소견은 정상이었으며, 갑상선 기능 검사 상 유리 $T_4$, TSH 농도는 정상이었다. 방사면역측정법에 의한 혈청 TBG는 측정되지 않았다. 중합효소연쇄반응을 이용하여 4개의 TBG 유전자 엑손을 증폭한 후 자동염기서열분석을 시행하였다. 두 대상아에서 모두 엑손 4의 352번째 codon의 첫 번째 단일 뉴클레오티드 C의 결손에 의한 frameshift 돌연변이로 374번째 codon에 termination codon이 나타난 것을 확인하였다. 대상아의 어머니들에게서는 돌연변이 대립유전자와 정상 대립유전자의 이형접합체를 확인하였다. 한국인 TBG 결핍증의 역학과 유전적 특성을 규명하기 위한 더 광범위한 연구가 필요할 것으로 생각된다.

• 한국임상수의학회지
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• 제32권1호
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• pp.1-4
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• 2015

개의 10번 염색체에 존재하는 Copper metabolism domain containing 1 (COMMD1) 유전자는 체내 구리 대사를 조절하는 COMMD1 단백질을 합성한다. COMMD1 유전자의 exon 2 결손변이는 단백질의 결핍을 유발하여 베들링턴 테리어 견종에서 상염색체 열성 유전질환인 구리 중독증을 일으킨다. 본 증에 이환된 개체는 담즙을 통한 구리의 배설이 저해되어 간 내에 구리가 축적된다. 본 연구에서는 국내 베들링턴 테리어 257두(수컷 109두, 암컷 148두) 혈액 시료를 사용하여 genomic DNA를 추출하였다. 유전자 결손변이의 분자생물학적 진단을 위해 다중 중합효소 연쇄반응법(multiplex PCR)을 이용하여 COMMD1 유전자의 exon 2 결손 발생 및 그 빈도를 조사하였다. 베들링턴 테리어 257두에서, 정상유전자 동협접합자가 131두(51%), 이형접합자가 108두(42%), 변이유전자 동형접합자가 18두(7%)로 확인되었다. 본 연구를 통해 한국 베들링턴 테리어 개체군의 유전변이 발생 및 그 빈도를 확인하였고, 이는 국내 베들링턴 테리어 개체군의 유전자 선택적 교배계획 설립 및 변이 유전자 확산을 예방하기 위한 기초 자료로서 의의가 있다.

• Applied Biological Chemistry
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• 제38권5호
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• pp.387-392
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• 1995

대두 glycinin 유전자의 조직 특이적이고 분화 발달 특이적인 발현 조절 메카니즘을 연구하기 위하여 Gy2 유전자의 5' upstream 부위 염기서열을 조사한 결과, glycinin 유전자의 발현을 조절하는 인자로 여겨지는 여러 가지 조절 인자들을 발견하였다. 진핵세포 유전자에 공통적으로 존재하는 TATA box와 AGGA box가 존재하고, 종자 저장 단백질에서 공통적으로 발견되는 embryo factor binding sequence, RY repeat CACA sequence, ${\beta}$-conglycinin enhancer 와 유사한 sequence 등이 발견되었다. 이러한 조절 요소들이 Gy2 유전자의 발현 조절에 미치는 영향을 알아보기 위해 Gy2유전자의 5' upstream부위를 Exo III nuclease와 여러가지 제한효소를 이용하여 일련의 deletion mutants를 제조한 후 GUS 유전자와 결합시켰다. 이들 여러가지 chimeric constructs를 대두 원형질체에 전입하고 원형질체로부터 추출물을 분리하여 GUS 활성을 조사한 결과, $-28l{\sim}-223$ 혹은 $-l70{\sim}-122$ 부위를 포함하였을 경우 활성이 감소하였고, $-223{\sim}-170$ 혹은 $-l22{\sim}-16$ 부위를 포함하였을 경우 활성이 높게 나타났다. 이러한 Gy2 유전자의 이중적인 발현 양상은 glycinin 유전자의 발현조절에 음성 조절 요소와 양성 조절 요소가 관여하고있다는 사실을 제시해 주고 있다. 또한 이들 여러가지 chimeric constructs로 형질 전환된 담배의 종자와 잎에서 GUS활성을 조사한 결과, CaMV promoter를 포함하는 chimeric construct는 종자와 잎에서 모두 활성을 나타냈으나, Gy2 Promoter를 포함하는 chimeric constructs는 종자에서만 GUS 활성을 나타내고 잎에서는 활성이 나타나지 않는 조직 특이적인 발현 양상을 나타내었다.

• Clinical and Experimental Pediatrics
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• 제56권6호
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• pp.265-268
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• 2013

Wiskott-Aldrich syndrome (WAS) is an inherited X-linked disorder. The WAS gene is located on the X chromosome and undergoes mutations, which affect various domains of the WAS protein, resulting in recurrent infection, eczema, and thrombocytopenia. However, the clinical features and severity of the disease vary according to the type of mutations in the WAS gene. Here, we describe the case of a 4-year-old boy with a history of marked thrombocytopenia since birth, who presented with recurrent herpes simplex infection and late onset of eczema. Examination of his family history revealed that older brother, who died from intracranial hemorrhage, had chronic idiopathic thrombocytopenia. Therefore, we proceeded with genetic analysis and found a new deletion mutation in the WAS gene: c.858delC (p.ser287Leufs$^*21$) as a hemizygous form.

• The Korean Journal of Physiology and Pharmacology
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• 제19권6호
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• pp.515-522
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• 2015

Notch signaling is a key regulator of neuronal fate during embryonic development, but its function in the adult brain is still largely unknown. Mind bomb-2 (Mib2) is an essential positive regulator of the Notch pathway, which acts in the Notch signal-sending cells. Therefore, genetic deletion of Mib2 in the mouse brain might help understand Notch signaling-mediated cell-cell interactions between neurons and their physiological function. Here we show that deletion of Mib2 in the mouse brain results in impaired hippocampal spatial memory and contextual fear memory. Accordingly, we found impaired hippocampal synaptic plasticity in Mib2 knock-out (KO) mice; however, basal synaptic transmission did not change at the Schaffer collateral-CA1 synapses. Using western blot analysis, we found that the level of cleaved Notch1 was lower in Mib2 KO mice than in wild type (WT) littermates after mild foot shock. Taken together, these data suggest that Mib2 plays a critical role in synaptic plasticity and spatial memory through the Notch signaling pathway.

• 한국환경성돌연변이발암원학회지
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• 제19권1호
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• pp.7-13
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• 1999

The mouse lymphoma thymidine kinase (tk+/-) gene assay (MOLY) using L5178Y tk+/- mouse lymphoma cell line is one of the mammalian forward mutation assays. It is well known that MOLY has many advantages and more sensitive than the other mammalian forward mutation assays such as x-linked hyposanthine phosphoribosyltransferase (hprt) gene assay. The target gene of MOLY is a heterozygous tk+/- gene located in 11 chromosome of L5178Y tk+/- cell, so it is able to detect the wide range of genetic changes like point mutation, deletion, rearrangement, and mitotic recombination within tk gene or deletion of entire chromosome 11. MOLY has relatively short expression time (2-3 days) compared to 1 week of hprt gene assay. MOLY can also induce relatively high mutant frequency so a large number of events can be recorded. The bimodal distribution of colony size which may indicate gene mutation and chromosome breakage potential of chemicals according to mutation scale such as large normal-growing mutants and small slow-growing mutants can be observed in this assay. The statistical analysis of data can be performed using the MUTANT program developed by York Electronic Research in association with Hazelton as recommended by the UKEMS (United Kingdom Environmental Mutagen Society) guidelines. This report reviewed MOLY using the microtiter cloning technique (microwell assay).

• The Plant Pathology Journal
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• 제21권1호
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• pp.39-46
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• 2005

The promoter region flanking the 5’ CAZFP1 coding region was isolated from the genomic DNA of Capsicum annuum. To identify the upstream region of the CAZFP1 gene required for promoter activity, a series of CAZFP1 promoter deletion derivatives was created. Each deletion construct was analyzed by Agrobacterium-mediated transient transformation in tobacco leaves after infection by Pseudomonas syringae pv. tabaci, or treatment with methyl jasmonate (MeJA), ethylene, abscisic acid (ABA), salicylic acid (SA), cold and wounding. Promoter fragments of 685 bp or longer showed 7-fold or greater induction after P. s. pv. tabaci infection and MeJA treatment. The CAZFP1 full-length promoter (-999 bp) also showed 6-fold induction in response to ethylene. The transiently transformed tobacco leaves with the CAZFP1 full length promoter fused-GUS gene showed more than 5-fold induction in response to SA, ABA and cold. These results suggest that the CAZFP1 promoter contains responsive elements for pathogen, MeJA, ethylene, SA, ABA and cold.

• 대한음성학회:학술대회논문집
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• 대한음성학회 1996년도 10월 학술대회지
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• pp.198-206
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• 1996

Using eighteen text materials from various goners of present-day Japanese, we collected phonologically reduced forms frequently observed in conversational Japanese, and classified them in search of unified explanation of phonological reduction phenomena. We found 7,516 cases of reduced forms which we divided into 43 categories according to the types of phonological changes they have undergone. The general tendencies ale that deletion and fusion of a phoneme or an entire syllable takes place frequently, resulting in the decrease in the number of syllable. Typical examples frequently observed throughout the materials are : $~/noda/{\rightarrow}~/nda/,{\;}-/teiru/{\rightarrow}~/teru/,{\;}~/dewa/{\rightarrow}~/zja/,{\;}~/tesimau/{\rightarrow}~/cjau/$. From morphosyntactic point of view phonological reduction often occurs at the NP and VP morpheme boundaries. The following findings are drawn from phonological observations of reduction. (1) Vowels are more easily deleted than consonants. (2) Bilabials(/m/, /b/, and /w/ are the most likely candidates for deletion. (3) In a concatenation of vowels, closed vowels are absorbed into open vowels, or two adjacent vowels come to create another vowel, in which case reconstruction of the original sequence is not always predictable. (4) Alveolars are palatalized under the influence of front vowels. (5) Regressive assimilation takes place in a syllable starting with ill, changing the entire syllable into phonological choked sound or a syllabic nasal, depending on the voicing of following phoneme.

• Parasites, Hosts and Diseases
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• 제39권4호
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• pp.313-318
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• 2001

The identification , characterization and quantification of Plasmodium sp. genetic polymorphism are becoming increasingly important in the vaccine development. We investigated polymorphism of Plasmodium vivax GAM-1 (PvGAM-1) gene in 30 Korean isolates. The polymorphic region of the PvGAM-1 gene, corresponding to nt 3792-4029, was amplified using polymerase chain reaction (PCR) followed by sequencing. All of the P. viuax Korean isolates were one type of GAM-1 gene, which were identical to that of the Belem strain. It is suggested that PvGAM-1 could not be used as a genetic marker for identifying or classifying P. vivax Korean isolates. It revealed that the polymorphic pattern as acquired basically by duplication and modification or deletion event of a 33 bp-motif fragment ended by poly guanine (G) and that there were at least three complete and one partial 33 Up-motif sequences within the polymorphic region in the longest cases such as those of South Korean and Belem isolates. In addition, we clustered P. vivax isolates with parsimonious criteria on the basis of PvGAM- 1 polymorphic patterns (insertion/deletion patterns) .

• BMB Reports
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• 제38권4호
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• pp.486-490
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• 2005

Genetic factors are important in the pathogenesis of coronary artery disease (CAD). Angiotensin converting enzyme (ACE) gene insertion(I)/deletion(D) polymorphism is one of the genetic factor found to be related with CAD. We investigated the association between I/D polymorphism of the ACE gene and the presence of CAD. Threehundred and seven patients (187 males and 120 females, aged between 35-80, mean $54.3{\pm}9.8$ years) who underwent diagnostic coronary angiography were included in the study. ACE I/D polymorphism was detected by polymerase chain reaction. Of the 307, 176 had CAD. The most frequently observed genotype in all subjects was ID (47.9 %). However, in patients with CAD the frequency of II genotype was lower whereas DD genotype was higher compared to the controls (p < 0.05). The number of D allele carrying subjects were also higher (p < 0.05) in CAD patients. The logistic regression analysis indicated that the ACE D allele is an independent risk factor (odds ratio = 1.48, 95% CI = 1.01-2.18, p < 0.05). In conclusion, the I/D polymorphism of ACE gene (carrying D allele) is an independent risk factor for CAD in the studied Turkish population.