• Journal of Applied Biological Chemistry
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• 제62권4호
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• pp.355-359
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• 2019

In vivo micronucleus tests were performed to investigate the mutagenic potential of 4-butylaniline and N-butylaniline, which are used in dye intermediates and organic intermediates respectively. Groups of 5 male ICR mice were treated with vehicle or 4-butylaniline for 2 consecutive days by oral gavage at concentrations of 0 (control), 64, 160, 400, and 1000 mg/kg. Statistically significant and dose-dependent increases were found for micronuclei frequencies in male mice (p <0.05). These results suggest that 4-butylaniline can induce genetic effects in the micronuclei of male mouse bone marrow cells. Based on the positive results obtained in cytogenetic analyses of somatic cells in vivo, Globally Harmonized System of Classification and Labelling of Chemicals Category 2 was assigned. N-butylaniline was administered for 2 consecutive days by oral gavage to male ICR mice at dose of 0 (control), 64, 160, 400, and 800 mg/kg. N-butylaniline tested negative for micronuclei induction in mice, although N-butylaniline was associated with micronucleus induction at the highest dose. Based on the negative results obtained for cytogenetic analyses of somatic cells in vivo, "Not Classified" was assigned.

• Journal of Genetic Medicine
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• 제15권1호
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• pp.8-12
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• 2018

Purpose: This study aimed to investigate fetal ultrasonographic findings in cases of prenatally diagnosed de novo balanced translocations and the role of fetal ultrasound in prenatal genetic counseling. Materials and Methods: We collected cases with de novo balanced translocations that were confirmed in chorionic villus sampling, amniocentesis, and cordocentesis between 1995 and 2016. A detailed, high-resolution ultrasonography was performed for prediction of prognosis. Chromosomes from the parents of affected fetuses were also analyzed to determine whether the balanced translocations were de novo or inherited. Results: Among 32,070 cases with prenatal cytogenetic analysis, 27 cases (1/1,188 incidence) with de novo balanced translocations were identified. Fourteen cases (51.9%) showed abnormal findings, and the frequency of major structural anomalies was 11.1%. Excluding the major structural anomalies, all mothers who continued pregnancies delivered healthy babies. Conclusion: Results of a detailed, high-resolution ultrasound examination are very important in genetic counseling for prenatally diagnosed de novo balanced translocations.

• 한국양식학회지
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• 제10권1호
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• pp.39-47
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• 1997

무지개송어, Oncorhynchus mykiss 와 산천어, O. masou 간 잡종 및 잡종 3배체가 유도되었다. 잡종 3배체의 3배체 유도율은 92%로 유도된 잡종 3배체의 초기 생존율은 잡종에 비해 높게 나타났다. 잡종의 염색체수는 2n=63 이었으며 잡종 3배체의 염색체수는 3n=93으로 나타났다. 잡종은 적혈구 세포 및 핵 크기에서 잡종유도시 사용된 무지개송어, 산천어의 적혈구 세포 및 핵 크기의 중간치를 나타냈으며 잡종 3배체는 잡종에 비해 배수화에 기인되어 큰 적혈구 세포 및 핵 크기를 나타내었다. 이러한 배수화는 인형성부위 수에서도 나타나 잡종은 1개 혹은 2개의 인형성부위를 보인 반면 잡종 3배체는 1개, 2개 혹은 3개의 인형성부위를 나타내었다.

• Clinical and Experimental Reproductive Medicine
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• 제13권2호
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• pp.153-159
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• 1986

The high rate of chromosomal abnormalities in patients with primary amenorrhea implies the need for routine screening for chromosomal abnormalities among such patients. This study was designed for the cytogenetic analysis of 236 patients with primary amenorrhea, which was referred to Yonsei University Medical Center, from January, 1, 1974 to December, 31, 1985. The results were as follows: 1. Of the 236 patients, 145 cases (61.4%) showed normal karyotype, and 91 cases (38.6%) showed chromosomal abnormalities. 2. Gonadal dysgenesis was found in 56 cases, consisting of 42 cases, Turner's syndrome, 12 cases, pure gonadal dysgenesis, and 2 cases mixed gonadal dysgenesis. a) Turner's syndrome was found in 42 cases, consisting of 18 cases of 45, X and 24 cases of mosaicism. b) Pure gonadal dysgenesis was found in 12 cases, consisting of 10 cases of 46, XX and 2 cases of 46, XY. c) Mixed gonadal dysgenesis was found in 2 cases, consisting of 1 case of 46, XY and 1 case of 45, X/46, XY. 3. Intersex was found in 80 cases, consisting of 35 cases of 46, XX, and 45 cases of 46, XY. 4. Congenital anomalies of reproductive system was found in 82 cases and all cases were normal karyotype.

• 한국패류학회지
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• 제28권1호
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• pp.37-43
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• 2012

북방전복, Haliotis discus hannai의 3배체를 제온자극으로 유도하고 부화유생인 trochophore를 이용하여 염색체 표본을 만들었고, 유도된 3배체와 정상 2배체 북방전복은 실내 유수식의 동일 환경에서 51개월 동안 사육되었으며 채취된 혈구를 채취하여 DNA 함량 측정에 사용되었다. 2배체 및 유도된 3배체의 염색체 수를 조사한 결과, 2배체 염색체 수는 2n = 36으로 나타났고, 3배체의 경우에는 3n = 54로 나타나 3배체는 2배체에 비해 1.5배의 염색체 수를 나타내었다. Flow cytometry로 인간의 백혈구를 control로 하여 북방전복의 DNA 함량을 측정한 결과, 북방전복의 DNA 함량은 1.743 pg/cell이었으며 3배체 북방전복의 DNA함량은 2배체 전복의 1.49배의 DNA 함량을 나타내어 3배체 특성인 모계 2n DNA 함량과 부계 n DNA함량을 나타내었다.

• Journal of Genetic Medicine
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• 제13권2호
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• pp.78-88
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• 2016

Purpose: To identify the clinical characteristics of SRY-negative male patients and genes related to male sex reversal, we performed a retrospective study using cases of 46,XX testicular disorders of sex development with a review of the literature. Materials and Methods:SRY-negative cases of 46,XX testicular disorders of sex development referred for cytogenetic analysis from 1983 to 2013 were examined using clinical findings, seminal analyses, basal hormone profiles, conventional cytogenetic analysis and polymerase chain reaction. Results: Chromosome analysis of cultured peripheral blood cells of 8,386 individuals found 19 cases (0.23%) with 46,XX testicular disorders of sex development. The SRY gene was confirmed to be absent in three of these 19 cases (15.8%). Conclusion: We report three rare cases of SRY-negative 46,XX testicular disorders of sex development. Genes on autosomes and the X chromosome that may have a role in sex determination were deduced through a literature review. These genes, through differences in gene dosage variation, may have a role in sex reversal in the absence of SRY.

• 한국수산과학회지
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• 제35권6호
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• pp.589-594
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• 2002

국내에 서식하는 붕어 (Carassius auratus) 3배체 집단을 동정하고 이들을 대상으로 분자생물학적, 세포유전학적 및 형태학적 특징을 분석하였다. 본 자연산 붕어 3배체 집단은 전형적인 3배체의 세포 유전학적 특성들, 즉 이배체에 비해 1.5배의 세포 및 핵의 크기, 3n=150의 염색체수, 그리고 2배체 (3.6pg/cell)에 비해 1.5배 증가된 DNA 함량 (5.4 pg/cell)을 나타내었다. 또한 본 3배 체붕어 집단은 DNA fingerprinting 분석에 의해 유전적인 구성이 동일한 클론 집단인 것으로 판명되었고 클론 3배체 붕어들은 2배체와 비교시 매우 일양한 형태학적 특성을 나타내었으며 모두 암컷인 전암컷 집단이었다. 본 연구의 분석에 사용된 함안 집단의 3배체 붕어 집단 이외에도 논산, 주문진, 속초 및 삼례 붕어 집단을 대상으로 3배체 출현 빈도를 조사한 결과, 모든 지역에서 $80\%$ 이상의 높은 3배체 빈도를 보였다.

• Clinical and Experimental Reproductive Medicine
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• 제32권2호
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• pp.113-119
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• 2005

Objective: The purposes of this study were to investigate the types and the incidences of chromosomal abnormalities, and to provide an explanation for the genetic causations of recurrent spontaneous abortions in Korean population. Methods: Cytogenetic studies were carried out in 535 couples with at least two spontaneous first trimester abortions from January 1981 to December 2003. For karyotype analysis, we used modified Moorhead method by Giemsa staining and Giemsa-Trypsin-Giemsa banding Results: The overall incidence of chromosome abnormality was 32 out of 535 cases (5.98%). There were 25 cases (4.67%) of translocation and 7 cases (1.31%) of inversion. In translocation, 5 cases (0.93%) of Robertsonian translocation and 20 cases (3.74%) of reciprocal translocation were observed. In inversion, 6 cases (1.12%) of inversion of chromosome 9 and one case (0.19%) of inversion of chromosome 18 were found. Conclusion: In this study, overall chromosomal abnormality rate in couples with recurrent spontaneous abortions is much higher than that in the general population. So, chromosomal analysis should be offered for the prognostic information in genetic counseling such as prenatal diagnosis in couples with repetitive reproductive failure.

• BLOOD RESEARCH
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• 제53권4호
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• pp.276-280
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• 2018

Background Chronic lymphocytic leukemia (CLL) exhibits profound heterogeneity in its clinical course. Its clinicohematological and cytogenetic features play a significant role in determining the clinical course and in predicting the treatment response and prognosis. In this context, 17p deletion is known to predict a poor prognosis, as these cases are refractory to conventional therapy. This study aimed to evaluate the clinicohematological characteristics, outcomes, and prognostic factors among CLL patients with and without del 17p in Pakistan. Methods This prospective observational study was conducted at the Department of Haematology, Armed Forces Institute of Pathology (Rawalpindi, Pakistan) between January 2013 and December 2017. Patients were diagnosed based on the International Workshop on Chronic Lymphocytic Leukaemia IWCLL criteria, their clinicohematological parameters were recorded, and cytogenetic analyses were performed. The time from diagnosis to treatment and the 2-year overall survival rate were also evaluated. Results We evaluated 130 CLL cases, including 24 patients (18.5%) with del 17p, who included 18 men (75%) and 6 women (25%). The median age was 68 years. Binet stage C was detected at the presentation in 16 patients (67%). Treatment was administered to 14 patients (70%) at a median interval of 11 months (range, 0-28 mo) after diagnosis. The overall response rate was 64.3%, the median event-free survival was 9 months (range, 1-23 mo), and the 2-year overall survival rate was 65%. Conclusion Del 17p is relatively common in Pakistan, and patients harboring this deletion had poor treatment response and survival outcomes.

• 대한임상검사과학회지
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• 제52권4호
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• pp.310-316
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• 2020

마이크로어레이 진단 기법의 발달은 세포유전학적 관점에서, 다양한 종류의 유전학적 질병과 관련하여 새로운 정보를 제공하고, 질병에 대한 기본적인 통찰력을 제공하는데 매우 중요한 역할을 제공하고 있다. 그동안 많은 연구들에서, 마이크로어레이 기술을 활용한 인간 게놈의 유동성과 다양성을 입증해 주었으며, 게놈의 취약성을 식별하기 위한 보다 정확한 진단기법과 적절한 임상 관리 방법을 효율적으로 제공해 왔다. 앞으로 다양한 유전과 관련된 질병에 기존 세포유전학적 방법을 자동화된 마이크로어레이 방법으로 전환한다면, 보다 효율적인 방법으로 질병을 진단하고, 정확성을 향상시키며, 유전자 배열의 암호화 및 복잡한 특성을 밝히는데 매우 중요한 역할을 할 것으로 생각된다. 또한 이 분석 기법을 활용하여 게놈과 인간의 건강, 질병과의 관계를 분석하여 다양한 정보를 미리 제공하여 질병을 예방하고, 질병의 진단 및 치료에도 도움이 될 수 있는 새로운 혁명을 일으킬 수 있을 것으로 기대된다.