• 한국시뮬레이션학회논문지
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• 제26권4호
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• pp.1-9
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• 2017

유전 알고리즘은 생물 유전학에 기본 이론을 두는 전역 탐색 알고리즘으로, 산업, 뉴럴 네트워크, 웹, 그리고 국방 등의 분야에서 활발히 사용되고 있다. 하지만 기존의 유전 알고리즘은 염색체의 개수가 고정되어 있는 형태여서 시뮬레이션 도중 초기에 주어진 상황보다 더 복잡한 상황이 주어질 수 있는 경우에는 적용이 힘들다는 한계점이 존재한다. 본 연구에서는 이를 극복하기 위해서 염색체 비분리를 적용한 가변 염색체 유전 알고리즘을 제안하였다. 그리고 염색체 수의 변화가 시뮬레이션 결과에 영향을 미치는 것을 확인하기 위하여 대 잠수함 HVU 호위 임무 시뮬레이션에 염색체 비분리를 적용한 가변 염색체 유전 알고리즘을 적용하였다. 시뮬레이션 결과 기존의 유전 알고리즘과는 달리 가변 염색체 유전 알고리즘에서는 더 복잡한 전술이 더 일찍 등장하였으며, 그에 따라 염색체 수가 증가하는 방향으로 진화가 일어나는 것을 확인할 수 있었다.

• Clinical and Experimental Pediatrics
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• 제59권sup1호
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• pp.10-13
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• 2016

Chromosome 11q13 deletion syndrome has been previously reported as either otodental syndrome or oculo-oto-dental syndrome. The otodental syndrome is characterized by dental abnormalities and high-frequency sensorineural hearing loss, and by ocular coloboma in some cases. The underlying genetic defect causing otodental syndrome is a hemizygous microdeletion involving the FGF3 gene on chromosome 11q13.3. Recently, a new form of severe deafness, microtia (small ear) and small teeth, without the appearance of eye abnormalities, was also reported. In this report, we describe a 1-year-old girl presenting with ptosis of the left upper eyelid, right auricular deformity, high-arched palate, delayed dentition, simian line on the right hand, microcephaly, and developmental delay. In this patient, we identified a deletion in the chromosome 11q13.2-q13.3 (2.75 Mb) region by using an array-comparative genomic hybridization analysis. The deletion in chromosome 11q13 results in a syndrome characterized by variable clinical manifestations. Some of these manifestations involve craniofacial dysmorphology and require a functional workup for hearing, ophthalmic examinations, and long-term dental care.

• 한국자원식물학회지
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• 제10권4호
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• pp.292-299
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• 1997

국내에 분포하는 개미취속 및 근연 분류군 17종류에 대하여 다양한 분류형질중 체세포염색체수를 조사하여 분류군에 대한 정확한 학명과 분류학적 위치를 파악하고자 하였다. 본 연구에서 취급된 분류군들의 체세포 염색체수는 동일 분류군내에서 개체간의 변이없이 일정하였고 분류군간에는 다양하게 나타났으며, 기본수에 의하여 x=9와 x=8의 2가지 유형으로 구분되었고 x=9인 유형은 배수성에 의하여 세분되었다. 본 연구에서 단양쑥부쟁이와 제주쑥부쟁이, 눈갯쑥부쟁이의 체세포 염색체수가 처음으로 밝혀졌으며, 국내에서 버드쟁이나물로 동정되어 왔던 개체들은 체세포 염색체수와 잎 형태를 조사한 결과, 가새쑥부쟁이의 변이체로 보는 것이 타당하고 사료된다.

• 한국지능시스템학회:학술대회논문집
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• 한국퍼지및지능시스템학회 1998년도 The Third Asian Fuzzy Systems Symposium
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• pp.634-639
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• 1998

A methodology based on the concept of variable string length GA(VGA) is developed for determining automatically the number of hyperplanes and their appropriate arrangement for modeling the class boundaries of a given training data set in RN. The genetic operators and fitness functionare newly defined to take care of the variability in chromosome length. Experimental results on different artificial and real life data sets are provided.

• Journal of Interdisciplinary Genomics
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• 제4권2호
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• pp.24-30
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• 2022

Klinefelter's syndrome (KS) is a syndrome with extra X chromosome(s), in XY individuals, characterized by gynecomastia, small testes, and infertility. Additional X chromosomes can be present as variable karyotypic forms, including mosaicism (47,XXY/46,XY). The reported prevalence of KS ranges from one in 500 to one in 1,000 live males, but is probably underestimated. The classic phenotype is small, firm testes and infertility resulting from seminiferous tubule dysgenesis and androgen deficiency. The spectrum of KS includes tall stature with relatively long legs and arm span, decreased body hair, learning disabilities, behavioral problems, poor motor skills, and other important medical issues, such as metabolic syndrome, diabetes, autoimmune diseases, cardiovascular disease, certain neoplasia. The increased risk of certain medical problems in KS can be attributed to a direct effect of the extra X chromosome, the combined action of multiple genomic and epigenetic factors, or the hormonal imbalances. Typically, chromosome analysis is not ordered for adult patients with general medical conditions, except for suspected cases of hematologic and lymphoid disorders. Even though it was found during work-up for certain disorders in adult patient, most physicians do not suspect KS or consider its impact. Therefore, understanding the pathophysiology and variable manifestation in KS is necessary, and discussions with multidisciplinary teams will help to diagnose and treat males with KS.

• 한국균학회지
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• 제27권2호통권89호
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• pp.112-118
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• 1999

한국, 일본 그리고 미국 등지에서 수집된 Fusarium oxysporum f. sp. lycopersici의 electrophoretic karyotype(EK)을 분석하고자 CHEF-DRII pulsed field gel electrophoresis system(Bio-Rad Laboratories, Melville, NY)으로 각 공시균의 chromosome sized DNA를 분리하였다. EK 분석에 적합한 CHEF gel electrophoresis 조건을 얻기 위해 전기영동 시간 및 전압 그리고 switching interval 등의 조건을 다양하게 바꾸어 가며 실험하였다. 그 결과 국내 균주에서 $0.76{\sim}6.41\;Mb$에 달하는 $9{\sim}11$개의 chromosome sized DNA가 분리되었으며 그 total genome size는 $35.29{\sim}38.92\;Mb$ 이었다. 또한 일본과 미국 균주로 부터 $1.24{\sim}6.85\;Mb$범위의 $9{\sim}11$개의 chromosome sized DNA가 분리되었고 그 total genome size는 $35.32{\sim}43.87\;Mb$ 이었다. 이와 같이 얻어진 각 공시균주의 EK는 chromosome sized DNA의 length range 및 total genome size에서 국내 균주와 외국 균주간의 차이를 잘 반영하였다. 또한 국내 균주의 chromosomal polymorphism은 그 변이가 적어 서로 동일하거나 유사하였으며 외국 균주와 뚜렷이 다른 chromosomal DNA pattern을 나타냈다.

• Clinical and Experimental Pediatrics
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• 제57권6호
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• pp.292-296
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• 2014

The deletion of the distal long arm of chromosome 1 is associated with a characteristic facial appearance and a pattern of associated malformations. Characteristic manifestations include a round face with prominent 'cupid's bow' and downturned corners of the mouth, thin vermilion borders of lips, a long upper lip with a smooth philtrum, a short and broad nose, epicanthal folds, apparently low-set ears, micrognathia, microcephaly, abnormal hands and feet, variable cardiac or genital anomalies, moderate to severe mental retardation, and growth retardation. Using fluorescent in situ hybridization (FISH) analysis to map precisely the deletion, we present a case of chromosome 1q44 deletion with craniofacial characteristics, multiple congenital anomalies, and growth and psychomotor retardation. In comparison with other reported cases of 1q43-44 deletion, the subject does not show hydrocephalus, seizure, syn- or polydactyly of hands, and a urogenital anomaly. However, an arachnoid cyst, pinpoint dimple on the midline of the forehead, a right-sided supernumerary nipple and auricular pit, polydactyly of the right foot, adducted thumb, and flexion restriction of the proximal interphalangeal joint with a simian line in both hands were observed additionally.

• 한국환경과학회지
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• 제7권5호
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• pp.599-605
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• 1998

The purpose of this work was to examine whether X-Y chromosome dissociation in the primary spermatocytes of mice could be used as an in vivo short-term assaying system that detect environmental mutagens. Four alkylating agents(EMS, MMS, MMC and MNNG) which were known as strong mutagens were administered to BALB/c male mice 3-4 months old. In the control group, the mean frequencies of previously dissociated X and Y chromosomes and autosomes were 7.17% and 2.12%, respectively. Compared to the control group, mutagen-treated groups have no significant differences in dissociation rate of autosomes, while these poops were about 1.2-2.5 times higher in the frequencies of X-Y dissociation. Generally, X-Y dissociation frequency increased consistently with the concentration of mutagens whereas the tendency of autosome dissociation frequency was variable among several mutagens. These results suggest that X-Y dissociation in the primary spermatocytes of mice is applicable as an vivo short-term assaying system for environmental mutagens. There were significantly distinct increase in dissociation of X-Y chromosome in both the hybrid and parents but the X-Y previous dissociation of hybrid appeared higher frequency than BALB /c and wild mice. These results indicate that the factor related to binding X-Y chromosome is specific to strains.

• Clinical and Experimental Pediatrics
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• 제57권7호
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• pp.333-336
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• 2014

Reports of constitutional ring chromosome 22, r(22) are rare. Individuals with r(22) present similar features as those with the 22q13 deletion syndrome. The instability in the ring chromosome contributes to the development of variable phenotypes. Central nervous system (CNS) atypical teratoid rhabdoid tumors (ATRTs) are rare, highly malignant tumors, primarily occurring in young children below 3 years of age. The majority of ATRT cases display genetic alterations of SMARCB1 (INI1/hSNF5 ), a tumor suppressor gene located on 22q11.2. The coexistence of a CNS ATRT in a child with a r(22) is rare. We present a case of a 4-month-old boy with 46,XY,r(22)(p13q13.3), generalized hypotonia and delayed development. High-resolution microarray analysis revealed a 3.5-Mb deletion at 22q13.31q13.33. At 11 months, the patient had an ATRT ($5.6cm{\times}5.0cm{\times}7.6cm$) in the cerebellar vermis, which was detected in the brain via magnetic resonance imaging.

• Journal of Genetic Medicine
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• 제11권1호
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• pp.36-39
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• 2014

Chromosome 3 (3p) deletion syndrome is a rare genomic disorder caused by a deletion at the terminal end of the short arm of chromosome 3. The primary characteristics of the syndrome are delayed development, dysmorphic features, and several other congenital anomalies. Here, we describe the case of a 2-year-old Korean girl with typical features of 3p deletion syndrome, including dysmorphic facial features, low birth weight, developmental delay, growth and cognitive retardation, and congenital heart disease. This case represents the first report of 3p deletion syndrome in Korea. Although phenotypes can be variable among patients, a clinically recognizable pattern has been described for this genetic defect, and our report helps to identify other cases with 3p deletion syndrome from a clinical and genetic perspective.