• The Korean Journal of Zoology
• /
• v.2 no.2
• /
• pp.15-24
• /
• 1959

Concluding the result of this observation, authors obtained the table showing chromosome numbers which are consisted in each species as follow. Viewing on this result, authors recognized Acrididae are determined the sex with X-O type. 6 species of Family Acrididae and one species of Family Gryllotalpidae (on above table) had already calculated the number of chromosomes by some foreign observers. But another one species (Briodema tuberculatum dilatum STOLL) clarified by authors firstly in this observation. In 2nd spermatocyte of Trilophidia annulata YHUMBERG 1 to 3 Ist constriction satellites were observed, and each of the small bodies was connected with thin fibre and constituted with same or less breadth as the main chromosomes. If those are not the satellites, they should be the super-numerary chromosomes appearing a dot form. In this observation, among 48 species of Family Acrididae which have been found in Korea 18 species were calculated their chromosome numbers which were including 1 species calculated by authors newly. And authors have reobserved the chromosomes of Gryllotalpa africana PALISOT de BEUVOIS of Family Gryllotalpidae which was done by Japanese before.

• Pediatric Infection and Vaccine
• /
• v.14 no.1
• /
• pp.116-119
• /
• 2007

Patients with primary immunodeficiencies often have symptoms of their disease for months or years before diagnosis and treatment. This is partly because these disorders are relatively uncommon and the infections typical of immunodeficienciey, for example otitis, sinusitis, and pneumonia, are common. We report a case of agammaglobulinemia in an 8-year-old boy with recurrent and severe infection. He was first seen in our hospital for bacterial meningitis in 2006. His immune status revealed panhypogammaglobulinemia and deficiency in mature B lymphocyte. His elder brother also showed deficiency in mature B lymphocyte but mild hypogammaglobulinemia. Some X-linked agammaglobulinemia (XLA) cases may remain undiagnosed because they only show mild hypogammaglobulinemia and they lack repeated infections in childhood.

• Neonatal Medicine
• /
• v.18 no.2
• /
• pp.370-373
• /
• 2011

Citrin deficiency caused by the SLC25A13 gene mutations is associated with both neonatal-onset type II citrullinemia (CTLN2), also known as neonatal intrahepatic cholestasis caused by citrin deficiency and adult-onset CTLN2. Neonatal-onset CTLN2 is an autosomal recessive disorder characterized by poor growth, intrahepatic cholestasis, and increased serum citrulline. A 16-days old infant with hyperammonemia was referred for evaluation of increased plasma citrulline diagnosed using tandem mass spectrometry. Blood amino acid analysis showed significant elevation of citrulline. Mild elevation in serum galactose levels had been found. DNA analysis of the SLC25A13 gene in this patient showed two novel compound heterozygous mutations, c.221C>T in exon4 and c.1645C in exon16 (p.[Ser74Phe]+[Gln549X]). We suggest that infants with a high serum citrulline level on a tandem mass screening test are candidates for gene analysis and blood amino acid analysis for neonatal-onset CTLN2.

• Journal of Life Science
• /
• v.9 no.1
• /
• pp.69-75
• /
• 1999

Four species belonging to the Drosophila melanogaster complex were examined genetically and morphologically to analyze interspecific relationships. Insemination rates ranged from 96% to 99% within species crosses, but interspecific crosses among the four species exhibited a great variations in the frequency of successful matings. D. melanogaster females mated relatively well with males of other species and D. sechellia males were more successful in mating with females of other species. In the crosses among D. simulans, D. mauritiana and D. sechellia, hybrid flies were fertile in females, but sterile in males regardless of reciprocal matings. The phenogenetically relationship between this complex and their hybrids were investigated by the comparison of sex comb tooth number and genital arch of male. They were controlled by polygenic factors on the chromosome of both parents. The effects of temperature on viability of hybrids between D. melanogaster females and D. simulans males were investigated for detection of genes concerning the speciation. The temperature sensitivity of the hybrid was mainly controlled by genes located on the X chromosome of D. simulans males.

• Journal of the korean academy of Pediatric Dentistry
• /
• v.38 no.1
• /
• pp.68-74
• /
• 2011

Rett syndrome is a X-linked genetic neurological disorder characterized by developmental regression, particularly in relation to expressive language and use of the hands, together with profound mental retardation, that almost exclusively affects females. Oral manifestations of the disease are commonly associated with the clinical conditions such as convulsion activity, difficulties for oral hygiene behavior, walking problems and oral/digitalmanual habits. Bruxism is the most frequently observed oral habit in patients with Rett syndrome. Two cases with the Rett syndrome were reported. Both patients had the typical manifestations like stereotypic hand movement, bruxism and digit-hand sucking. Caries control for the patients was perfomed under general anesthesia.

• Environmental Analysis Health and Toxicology
• /
• v.20 no.1
• /
• pp.39-45
• /
• 2005

Renin-angiotensin system (RAS)은 혈압 조절에 중요한 역할을 수행하는 생리적 조절계로써, 이 system 을 구성하는 유전자들의 이상은 본태성 고혈압의 발병과 유의하게 관련된 것으로 알려졌다. RAS의 주요한 구성 성분인 angiotensin II는 2종류의 수용체인 angiotensin II type I receptor(AT₁R)와 angiotensin II type I receptor(AT₂R)에 의해 그 효과가 매개되기 때문에, 이 수용체를 암호하는 유전자는 본태성 고혈압의 유력한 후보 유전자라고 볼 수 있다. 현재가지의 연구에 의하면, AT₁R 유전자에 존재하는 유전적 변이와 본태성 고혈압과의 관련성에 관해서는 많은 보고들이 있었지만, AT₂R 유전자에 존재하는 유전적 변이 가 본태성 고혈압에 유의한 효과를 나타내는 지에 관해서는 이렇다할 연구 성과가 별로 없는 실정이다. 이에 본 연구에서는 한국인 집단을 대상으로 하여, AT₂R 유전자에 존재하는 C3123A 다형성이 한국인 집단에서 본태성 고혈압과 유의한 관련성이 있는 지를 분석하였다. 이 유전자는 인간의 X 염색체에 존재하기 때문에, 여성인 경우에는 CC, CA및 AA로 이루어진 3유전자형이 존재하지만, 남성인 경우에는 C와 A로 이루어진 2종류의 대립 유전자로 구성되어 있기 때문에, 본 연구에서는 남성과 여성을 개별적으로 나누어서 분석하였다. 연구 결과, AT₂R 유전자에 존재하는 C3123A 다형성은 남녀 모두에서 본태성 고혈압과 유의한 관련성을 나타내지 않았다(P>0.05). 그렇지만, 이 다형성에 대한 대립 유전자 빈도를 서양인 집단과 비교했을 경우에는, 한국인을 대상으로 한 본 연구에서 A 대립 유전자 빈도가 0.33인 반면에 서양인 집단은 그 빈도가 0.43～0.48로 한국인 집단보다 높은 값을 나타내었다. 따라서, AT₂R 유전자에 존재하는 C3123A 다형성과 본태성 고혈압과의 관련성에 대해서는 한국인과 유전적 배경이 다른 서양인 집단을 대상으로 한 추시가 필요할 것으로 사료된다.

• Journal of the korean academy of Pediatric Dentistry
• /
• v.42 no.2
• /
• pp.180-187
• /
• 2015

Incontinentia pigmenti, also called Bloch-Sulzberger syndrome, is a rare X-linked inherited dominant disorder that affects females, but causes spontaneous abortion of prenatal males. Incontinentia pigmenti is a systemic disease with clinical features similar to ectodermal dysplasia, including congenitally missing teeth. The pathogenesis is related to gene mutations in NF-kappa-B essential modulator on chromosome Xq28. Incontinentia pigmenti is caused by a defect in the developmental stage of organs originating from the ectoderm or mesoderm and involves the skin, eyes, hair, teeth and central nervous system. This report discusses the management of three cases of 3 to 5 years old females with incontinentia pigmenti and accompanying multiple missing teeth. The cases had sparse hair, and showed oligodontia and anomalous crowns with supplementary cusps in the posterior teeth and conical anterior teeth. Removable space maintainers were applied, achieving improved esthetics, recovery of mastication and increased self-esteem in the patients.

• Journal of the korean academy of Pediatric Dentistry
• /
• v.48 no.3
• /
• pp.359-366
• /
• 2021

Glucose-6-phosphate dehydrogenase (G6PD) deficiency is an X-linked recessive disorder and is the most common enzyme deficiency worldwide. Although this disease is rare in Korea, its prevalence may increase due to an increase of multicultural families. Patients with this deficiency are prone to hemolytic anemia provoked by specific drugs commonly used or prescribed in pediatric dentistry. It is necessary for pediatric dentists to have accurate knowledge of a patient's medical history and to consult with a pediatric hematologist to avoid oxidative stress that can lead to hemolysis. The most effective treatment is prevention of exposure to factors that may trigger anemia. Appropriate education regarding risk factors is essential for patients diagnosed with this disease. This case report aimed to discuss the drugs and dental management methods that should be cautious in children with G6PD deficiency.

• Journal of Plant Biotechnology
• /
• v.35 no.3
• /
• pp.177-183
• /
• 2008

Ac/Ds mutant lines of this study were transgenic rice plants, each of which harbored the maize transposable element Ds together with a GUS coding sequence under the control of a promoterless(Ds-GUS). We selected the mutants that were GUS expressed lines, because the GUS positive lines will be useful for identifying gene function in rice. One of these mutants was identified knock-out at Oszinc626(NP_001049991) gene, encoding a RING-H2 zinc-finger protein, by Ds insertion. In this mutant, while primary root development is normal, secondary root development from lateral root was very poor and seed development was incomplete compare with normal plant. RING zinc-finger proteins play important roles in the regulation of development in a variety of organisms. In the plant kingdom, a few genes encoding RING zinc-finger proteins have been documented with visible effects on plant growth and development. The consensus of the RING-H2(C3-H2-C3 type) domain for this group of protein is $Cys-X_2-Cys-X_{28}-Cys-X-His-X_2-His-X_2-Cys-X_{14}-Cys-X_2-Cys$. Oszinc626 encodes a predicted protein product of 445 amino acids residues with a molecular mass of 49 kDa, with a RING-zinc-finger motif located at the extreme end of the C-terminus. RT-PCR analysis indicated that the expression of Oszinc626 gene was induced by IAA, cold, dehydration, high-salinity and abscisic acid, but not by 2,4-D, and the transcription of Oszinc626 gene accumulated primarily in rice immature seeds, root meristem and shoots. The gene accumulation patterns were corresponded with GUS expression.

• Journal of Korean Society of Forest Science
• /
• v.17 no.1
• /
• pp.1-15
• /
• 1973

In an effort to improve the major tree species in Korea, the seed of Robinia pseudoacacia, Pinus rigida, Pinus densiflora, Pinus thunbergii and Larix leptolepis were treated with X-ray and thermal neutron at the Brookhaven National Laboratory, and germination rate of the seed and some characteristics of the seedlings from irradiated seed were investigated and the results were summarized as follows. 1. The germination rate of the irradiated seed of Robinia pseudoacacia, Pinus densiflora, Pinus thunbergii and Pinus rigida was decreased, when the irradiation time of thermal neutron increased from 3 hours to 9 hours. The seed of Larix leptolepis was completely died out in all range of irradiation time. 2. The seed of Pinus densiflora, Robinia pseudoacacia and Pinus rigida showed low germination rate, when the dosage of radiation increased in the range of 10,000r-30,000r X-ray. This dosage of radiation was almost lethal to the seed of Pinus thunbergii and Larix leptolepis. 3. The growth rate of radiated Robinia pseudoacacia has been decreased when the dosage of X-ray and thermal neutron increased. However, the trees treated with thermal neutron for 3 hours showed 14.9 percent-increase in seedling height and some thornless individuals appeared in this treatment. 4. Individuals with variegated leaf, rugose leaf and albino were appeared in X-ray and thermal neutron treatment. 5. Abnormal mitosis of somatic cell, cell with two nucleoli, cell with two nuclei and chromosome clump in mitosis of somatic cell were observed in Robinia pseudoacacia irradiated with thermal neutron. 6. Resistanty against pawdery mildew was decreased in Robinia pseudoacacia radiated with X-ray and thermal neutron. 7. Length of stomata did not show any difference however number of stomata per unit area decreased in Robinia pseudoacacia radiated with thermal neutron. The leaves of Robinia pseudoacacia radiated with thermal neutron were thicker than those of non-treated one, but width of palisade tissue was decreased. The most sensitive one among those species to the thermal neutron treatment was Larix leptolepis, followed by Pinus densiflora, Robinia pseudoacacia, Pinus thunbergii and Pinus rigida in the order. In X-ray treatment, the most sensitive one was Larix leptolepis, followed by Pinus densiflora, Pinus thunbergii, Pinus rigida and Robinia pseudoacacia in the order. Morphological, cytological variation of the radiated Robinia pseudoacacia seemed to indicate some possibility to be used for tree improvement.