• Genomics & Informatics
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• 제7권3호
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• pp.159-162
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• 2009

Human personal genome sequencing can be done with high efficiency by aligning a huge number of short reads derived from various next generation sequencing (NGS) technologies to the reference genome sequence. One of the major obstacles is the incompleteness of human reference genome. We tried to analyze the effect of hidden gene duplication on the NGS data using the known example of hydin gene. Hydin2, a duplicated copy of hydin on chromosome 16q22, has been recently found to be localized to chromosome 1q21, and is not included in the current version of standard human genome reference. We found that all of eight personal genome data published so far do not contain hydin2, and there is large number of nsSNPs in hydin. The heterozygosity of those nsSNPs was significantly higher than expected. The sequence coverage depth in hydin gene was about two fold of average depth. We believe that these unique finding of hydin can be used as useful indicators to discover new hidden multiplication in human genome.

• Journal of Genetic Medicine
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• 제12권1호
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• pp.49-56
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• 2015

We herein report an analysis of a female baby with a de novo dup(10p)/del(10q) chromosomal aberration. A prenatal cytogenetic analysis was performed owing to abnormal ultrasound findings including a choroid plexus cyst, prominent cisterna magna, and a slightly medially displaced stomach. The fetal karyotype showed additional material attached to the terminal region of chromosome 10q. Parental karyotypes were both normal. At birth, the baby showed hypotonia, upslanting palpebral fissures, a nodular back mass, respiratory distress, neonatal jaundice and a suspicious polycystic kidney. We ascertained that the karyotype of the baby was 46,XX,der(10)($pter{\rightarrow}q26.3::p11.2{\rightarrow}pter$) by cytogenetic and molecular cytogenetic analyses including high resolution GTG-and RBG-banding, fluorescence in situ hybridization, comparative genomic hybridization, and short tandem repeat marker analyses. While almost all reported cases of 10p duplication originated from one of the parents with a pericentric inversion, our case is extraordinarily rare as the de novo dup(10p)/del(10q) presumably originated from a rearrangement at the premeiotic stage of the parental germ cell or from parental germline mosaicism.

• 인간행동과 음악연구
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• 제5권1호
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• pp.47-65
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• 2008

이 연구는 놀도프-로빈스 음악치료사 1단계 훈련과정에서 치료사의 내담자였던 15q 염색체중복 증후군(Chromosome 15q Duplication Syndrome)을 가진 E와의 치료사례에 대한 놀도프-로빈스 훈련과정에서 요구되는 형식의 임상사례연구로, 그 주요 내용은 내담자의 변화와 성장뿐만 아니라 치료과정 전반에 걸친 치료사의 경험과 이를 통한 치료사의 변화와 성장도 포함한다. E는 정신적, 신체적 영역에서 도움이 필요한 내담자였고 치료사는 E와의 치료과정에서 많은 시행착오를 겪었다. 이러한 경험을 통해 치료사는 내담자를 더욱 깊이 이해하게 되었고 음악치료사의 역할에 대한 새로운 시각을 얻을 수 있었다. 매 회기마다 상이하고 다양한 반응을 보였던 E와의 치료를 진행하면서 치료의 조직화(organization)에 대한 많은 고민이 있었고, 이에 대한 적절한 설명을 위해 놀도프-로빈스 음악치료의 다양한 이론들 중 Aigen(1996)의 '임상적-음악적 상호작용의 질'을 채용하였다.

• Clinical and Experimental Pediatrics
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• 제59권2호
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• pp.91-95
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• 2016

We report the case of a 22-month-old boy with a new mosaic partial unbalanced translocation of 1q and 18q. The patient was referred to our Pediatric Department for developmental delay. He showed mild facial dysmorphism, physical growth retardation, a hearing disability, and had a history of patent ductus arteriosus. White matter abnormality on brain magnetic resonance images was also noted. His initial routine chromosomal analysis revealed a normal 46,XY karyotype. In a microarray-based comparative genomic hybridization (aCGH) analysis, subtle copy number changes in 1q32.1-q44 (copy gain) and 18q21.33-18q23 (copy loss) suggested an unbalanced translocation of t(1;18). Repeated chromosomal analysis revealed a low-level mosaic translocation karyotype of 46,XY,der(18)t(1;18) (q32.1;q21.3)[12]/46,XY[152]. Because his parents had normal karyotypes, his translocation was considered to be de novo. The abnormalities observed in aCGH were confirmed by metaphase fluorescent in situ hybridization. We report this patient as a new karyotype presenting developmental delay, facial dysmorphism, cerebral dysmyelination, and other abnormalities.

• 호남수학학술지
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• 제35권4호
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• pp.701-706
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• 2013

Summation theorems for hypergeometric series $_2F_1$ and generalized hypergeometric series $_pF_q$ play important roles in themselves and their diverse applications. Some summation theorems for $_2F_1$ and $_pF_q$ have been established in several or many ways. Here we give a proof of Watson's classical summation theorem for the series $_3F_2$(1) by following the same lines used by Rakha [7] except for the last step in which we applied an integral formula introduced by Choi et al. [3].

• Journal of Genetic Medicine
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• 제18권1호
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• pp.48-54
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• 2021

Genetic imbalances are a major cause of congenital and developmental abnormalities. We report the first case of a 3p26 microdeletion and 5q35.2q35.3 microduplication in a newborn with multiple congenital anomalies evaluated using chromosomal microarray analysis (CMA) and fluorescence in situ hybridization (FISH). The patient was born at 30 weeks and 2 days of gestation with a body weight of 890 g. He had symmetric intrauterine growth restriction, microcephaly, facial dysmorphism (hypertelorism, blepharophimosis, mild low-set ears, high-arched palate, and micrognathia), and right thumb polydactyly. Echocardiography revealed an atrial septal defect and patent ductus arteriosus. Furthermore, CMA revealed a concurrent microdeletion in 3p26 and a microduplication in 5q35.2q35.3. FISH analysis showed that these genetic changes resulted from a translocation mutation between chromosomes 3 and 5. The patient's mother had mild intellectual disability, short stature, and facial dysmorphism, while his father had a normal phenotype. However, parental FISH analysis revealed that the asymptomatic father carried a balanced translocation of chromosomes 3p26 and 5q35. CMA and FISH tests are useful for diagnosing neonates with multiple congenital abnormalities. Further parental genetic investigation and proper genetic counseling are necessary in cases of chromosomal abnormalities inherited from parental balanced translocations.

• Journal of Genetic Medicine
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• 제8권2호
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• pp.119-124
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• 2011

목적: 표지염색체(supernumerary marker chromosome, SMC)는 유래한 염색체에 따라서 임상 증상이 다양하다. 본 연구는 염색체 마이크로어레이를 이용하여 SMC의 기원을 밝히고 각 증례마다 분자세포유전학적 특성과 임상 표현형을 분석하고자 하였다. 대상 및 방법: 염색체 검사에서 SMC가 검출된 환자들 중에서 15번 염색체 유래를 제외한 4명의 환자에서 CGH 기법의 올리고 뉴클레오티드 염색체 마이크로어레이를 시행하였다. 결과: 3명의 환자에서 유래된 염색체 부위를 확인할 수 있었다. 증례1은 1q21.1-q23.3에서 16.1 Mb의 SMC를 가졌고, 증례2는 19p13.11-q13.12에서 21 Mb, 증례3은 22q11.1-q11.21과 22q11.22-q11.23의 두 구간에서 각각 2.5Mb와 2.0Mb로 재배열된 4.5 Mb의 SMC를 나타내었다. 결론: 증례1은 1q21.1 중복증후군을 포함하여 광범위한 임상표 현형을 나타내었다. 증례2는 아스퍼거 증후군과 유사한 정신행동 이상 소견은 19p12-q13.11, 청력장애와 사시는 19p13.11, 그 외 증상은 19q13.12의 유전자와 연관 가능성이 높다. 증례３은 묘안 증후군 type I 및 22q11.2 미세중복증후군과 비교했을 때 항문폐쇄는 22q11.1-q11.21, 그 외 증상들은 22q11.22-q11.23과 연관성을 시사하였다. 고해상도 염색체 마이크로어레이 분석은 SMC의 유래를 확인할 수 있고 유전형-표현형 상관성을 이해함으로써 유전상담에 도움이 된다.

• 대한간호학회지
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• 제34권8호
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• pp.1434-1442
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• 2004

Purpose. Professional nursing ethics is a living, dynamic set of standards for nurses' professional moral behavior. Furthermore, in daily clinical nursing training, nursing students are constantly confronted with decision-making that is moral in nature. The aim of this study was to identify the perceived ethical attitudes in the clinical training process of senior nursing students using Q-methodology to offer basic strategies for nursing ethics education and thereby improve patients' care. Methods. Q-methodology provides a scientific method for identifying perception structures that exist within certain individuals or groups. Thirty-seven participants in a university rated 38 selected Q-statements on a scale of 1-9. The collected data were analyzed using pc-QUNAL software. Results. Principal component analysis identified 3 types of ethical attitudes in nursing students in Korea. The categories were labeled Sacred-life, Science-realistic and Humane-life. Sacred-life individuals think that a life belongs to an absolute power (God), not a man, and a human life is a high and noble thing. Science-realistic individuals disagreed that allowing an induced abortion or embryo (human) duplication is unethical behavior that provokes a trend, which takes the value of a life lightly; most of them took a utilitarian position with respect to ethical decisions. Humane-life individuals exhibit a tendency toward human-centered thought with respect to ethical attitudes. Conclusion. This study will be of interest to educators of students of nursing and hospital nursing administrators. Also, the findings may provide the basis for the development of more appropriate strategies to improve nursing ethics education programs.

• Fisheries and Aquatic Sciences
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• 제20권6호
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• pp.10.1-10.7
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• 2017

Small GTPases are well known as one of the signal transduction factors of immune systems. The ADP-ribosylation factors (ARFs) can be classified into three groups based on the peptide sequence, protein molecular weight, gene structure, and phylogenetic analysis. ARF1 recruits coat proteins to the Golgi membranes when it is bound to GTP. The class I duplicated ARF gene was cloned and characterized from the olive flounder (Paralichthys olivaceus) for this study. PoARF1b contains the GTP-binding motif and the switch 1 and 2 regions. PoARF1b and PoARF1b mutants were transfected into a Hirame natural embryo cell to determine the distribution of its GDP/GTP-bound state; consequently, it was confirmed that PoARF1b associates with the Golgi body when it is in a GTP-binding form. The results of the qPCR-described PoARF1b were expressed for all of the P. olivaceus tissues. The authors plan to study the gene expression patterns of PoARF1b in terms of immunity challenges.

• BMB Reports
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• 제43권10호
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• pp.693-697
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• 2010

Hereditary non-polyposis colorectal cancer (HNPCC) is an autosomal dominant syndrome characterized by predisposition to early-onset cancers. HNPCC is caused by heterozygous loss-of-function mutations within the mismatch repair genes MLH1, MSH2, MSH6, PMS1, and PMS2. We genotyped the MLH1 and MSH2 genes in patients suffering from Lynch syndrome and in 11 unrelated patients who were diagnosed with colorectal cancer and had subsequently undergone surgery. Five Lynch syndrome patients carried germline mutations in MLH1 or MSH2. Two of these were identified as known mutations in MLH1: deletion of exon 10 and a point mutation (V384D). The remaining three patients exhibited novel mutations: a duplication (937_942dupGAAGTT) in MLH1; deletion of exons 8, 9, and 10; and a point mutation in MLH1 (F396I) combined with multiple missense mutations in MSH2 (D295G, K808E, Q855P, and I884T). The findings underline the importance of efficient pre-screening of conspicuous cases.