• Title/Summary/Keyword: cytogenetic

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Fenugreek seeds reduce aluminum toxicity associated with renal failure in rats

  • Belaid-Nouira, Yosra;Bakhta, Hayfa;Haouas, Zohra;Flehi-Slim, Imen;Cheikh, Hassen Ben
    • Nutrition Research and Practice
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    • v.7 no.6
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    • pp.466-474
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    • 2013
  • Despite the reports on safety concerns regarding the relationship between aluminum salts and neurological and bone disease, many countries continue to use aluminum as phosphate binders among patients with renal failure. In search for a diet supplement that could reduce aluminum toxicity related to renal failure, we carried out this prospective animal study in which the fenugreek seeds were assessed for their effects on rats nephrotoxicity induced by aluminum chloride ($AlCl_3$). Oral $AlCl_3$ administration during 5 months (500 mg/kg bw i.g for one month then 1600 ppm via drinking water) led to plasma biochemical changes, an inhibition of alkaline phosphatase (ALP), a decrease of total antioxidant status (TAS), and an induction of lipid peroxidation (LPO) in the blood and brain, in addition to kidney atrophy and morphological alterations at the level of Bowman's capsule, the glomerulus and different sorts of tubules, reminiscent of some known kidney disease. The treatment with the whole fenugreek seed powder (FSP) (5% in the diet) during the last 2 months showed its effectiveness in restoring normal plasma values of urea, creatinine, ALP and glucose, as well as re-increasing the TAS, inhibiting LPO and alleviating histopathological changes in the injured kidneys. This study highlights the induced nephrotoxicicity, as well as the related toxicity in the brain and bone, by chronic oral ingestion of the aluminum salts. However, the maintenance of a diet supplemented with fenugreek seeds could offer protection for the kidney, bone and brain, at the same time.

A Cytogenetic Study of Down's Syndrome (다운증후군의 세포유전학적 연구)

  • Moon, S.Y.;Park, J.S.;Choe, J.;Ko, H.J.;Oh, S.K.;Shin, C.J.
    • Clinical and Experimental Reproductive Medicine
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    • v.24 no.2
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    • pp.199-210
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    • 1997
  • A study has been carried out to elucidate the cytogenetic characteristics of Down's syndrome in Korea. This study includes 877 cases which were diagnosed as Down's syndrome by the chromosomal analyses at the Cytogenetic Laboratory, Institute of Reproductive Medicine and Population, Seoul National University for 13 years from January, 1984 to December, 1996. 1. 83.6% of cases were diagnosed under 1 year of age and 10.9% were between 1 and 4 years old. The overall sex ratio was 3 to 2 (male to female). 2. The most frequent indication for cytogenetic analyses was suspicion of Down's syndrome. The next were growth retardation, congenital heart diseases, congenital anomalies. 3. 88.4% of cases had free trisomy 21. In 6.5%, there was translocation, mostly Robertsonian t(14;21) or t(21;21). 3.9% of cases were mosaics mostly with one normal cell line. 4. Karyotyping was also performed in 204 parents of patients. 6 parents (2.9%) were seen to be translocation carriers of Down's syndrome. We find the unique features of Down's syndrome in Korea that the incidences of free trisomy 21 is relatively lower and that translocation is higher than western countries.

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Cytogenetic Analysis of Induced Hybrid between Common Carp (Cyprinus carpio) and Crucian Carp (Carassius auratus) (잉어(Cyprinus carpio)와 붕어(Carassius auratus)간 잡종의 세포유전학적 분석)

  • 남윤권;오승용;조재윤;김동수
    • Journal of Aquaculture
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    • v.11 no.1
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    • pp.77-81
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    • 1998
  • Cytogenetic analyses were carried out with induced hybrid between common carp (Cyprinus carpio) female and crucian carp (Carassius auratus) male. The erythrocytic measurement revealed that cellular and nuclear size of induced hybrids were intermediate between those of paremtal species. The modal chromosome numbers of common carp, crucian carp and its hybid were same as 2n=100. The DNA content of induced hybrids determined based on flow cytometry was 3.7pg/cell which corresponding to intermediate value between the carp (3.6ph/cell) and crucian carp (3.8pg/cell)

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Six-years' Experience of Pseudomosaicism and Maternal Cell Contamination in Cultured Amniocytes

  • Moon, Shin-Yong;Jee, Byung-Chul;Kim, Seok-Hyun;Oh, Sun-Kyung;Park, Joong-Shin;Choi, Young-Min
    • Journal of Genetic Medicine
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    • v.3 no.1
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    • pp.25-27
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    • 1999
  • Purpose: To present our experiences in pseudomosaicism or maternal cell contamination in genetic mid-trimester amniocentesis confirmed through percutaneous umbilical blood sampling. Methods: From 1992 to 1997, repeated cytogenetic evaluation with fetal cord blood was carried out in 14 cases showing mosaic patterns. Results: We confirmed pseudomosaicism in 12 cases (85.7%) by repeated cytogenetic evaluation, and also maternal cell contamination in 2 cases. Conclusion: Repeated cytogenetic evaluation via percutaneous umbilical blood sampling was a rapid and useful method for the confirmation of mosaicism resulted from genetic mid-trimester amniocentesis.

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Cytogenetic Characteristics of Cyprinidae between Diploid and Spontaneous Triploid in Major River of Korea

  • Goo, In Bon;Lim, Sang Gu;Gil, Hyun Woo;Park, In-Seok;Choi, Cheol Young
    • Journal of Marine Life Science
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    • v.3 no.1
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    • pp.9-21
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    • 2018
  • This study investigated cytogenetic and hematological and histological characteristics between diploid and spontaneous triploid on Cyprinidae (Crucian carp, Carassius auratus; crucian carp, C. cuvieri and common carp, Cyprinus carpio) in four major rivers of Korea. In our results, DNA contents of triploid Cyprinidae were 50% more than those of diploid Cyprinidae. Also, erythrocyte size of triploid Cyprinidae was 50% larger than those of diploid Cyprinidae. In all sampling rivers, sex ratios of C. auratus were biased to female, and especially, triploid groups of C. auratus were all female groups (p<0.05). In principle, sex ratios of C. cuvieri and common carp were equivalent between male and female.

A Clinico-Horomonal and Cytogenetic Studies in Patients with Gonadal Dysgenesis (성선 발육 부전 환자에 대한 임상 및 세포 유전학적 연구)

  • Lee, Y.J.;Yang, Y.H.;Kim, D.H.;Kim, Y.M.
    • Clinical and Experimental Reproductive Medicine
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    • v.10 no.2
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    • pp.25-37
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    • 1983
  • As the cytogenetic developed, cytogenetic study has also developed progressively. This study is a systematical cytogenetic and clinico-hormonal analysis of 20 cases Wp.ere gonadal dysgenesis was diagnosed and deferred to the Dept. of obstetrics and Gynecology, Yonsei University, Medical School from Jan. 1974 to Aug. 1983. Twenty patients with the diagnosis of gonada dysgenesis have been assesed as to possible correlations between clinical, homonal and cytogenic findings. The desults were as follows; l. Gonadal dysgenesis were found in 20 cases, consisting of 15 cases (75%) of turnurs syndrome, 4 case of pure gonadal dysgenesis (20%), 46. XX and 1 case of mixed gonadal dysgenesis, 45,XO/46,XY. 2. Patients with XO karyotype, turner's ryndorme, have a resonably constant clinical picture of sexual infantilism with streak gonads, short status and webbed neck. 3. 17 cases were found primary amenorhea and two cases were noted with 2 ndary amenorrhea. one case has been presented with menstruation. 4. The rudimentary streak gonads were found in 7 cases of 8 cases and one case has a rudimentary streak gonad on one side and a testis on the contralateral side. 5. The study showed that potients with gonadal dysgenesis had an average of about 4-8 times higher basal FSH and about 3-7 times higher basal LH than that of the early follicular phase of normal menstrual cycle. 6. Two cases of three gonadal dysgenesis patieats, who performed LH-RH challage test, showed that the serum FSH levels reached the maximal level at 30 min after injection of CHRH and the serum LH level reached the maximal level at 60 min ofter injection of LHRH one case showed no significant response to LH-RH injection. Thus, bu studying simultoneously the clinical, cytogenic, hormonal aspects and visualization of gonads, we have gained some practical insight into the requirements for proper disgnosis and treatment.

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Detection of the BCR/abl Gene Rearrangement by Reverse Transcriptase Based Polymerase Chain Reaction

  • Lee, Kyung-Ok;Park, Young-Suk;Kim, Yong-Woo;Han, Jung-A;Kim, Yoon-Jung
    • BMB Reports
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    • v.29 no.3
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    • pp.241-247
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    • 1996
  • The Philadelphia (Ph) chromosome is the single most intensively studied chromosome alteration characterizing a human malignancy. The specific genetic alteration of chronic myelogenous leukemia (CML) is the formation of the BCR/abl fusion gene in leukemic cells. The presence of the BCR/abl gene has important diagnostic and prognostic implications in CML. The detection of BCR/abl transcripts by reverse transcriptase based polymerase chain reaction (RT-PCR) was investigated in patients with CML in whom the Ph chromosome abnormality was documented by cytogenetic analysis. In a total of 68 CML patient cases, the Ph chromosome was found in 53 cases (77.9%) by cytogenetic analysis. On the other hand, sixty two cases (91.2%) were detected to have BCR/abl gene rearrangement Of these, b3a2 was 44 cases (64.7%) and b2a2 was 17 cases (25,0%). There was one case with both b3a2 and b2a2 (1.5%). Of the fifteen cases of Ph chromosome negative by cytogenetic anlaysis, the BCR/abl gene was observed in nine cases, The results of BCR/abl fusion gene confirmed by the direct sequencing method correlated well with PCR analysis, The amplified PCR products were detected by $1{\times}10^{-5}$ dilutions. In conclusion, PCR technique is sensitive, rapid and relatively simple for a laboratory test in detecting the BCR/abl fusion gene with CML regardless of the result of cytogenetic analysis.

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Cytogenetic evaluation of a patient with ring chromosome 9 presenting failure to thrive and developmental delay (성장부진과 발달지연을 보인 환아에서 확인된 환상 9번 염색체 1례의 세포유전학적인 연구)

  • Park, Yun Mi;Nho, Han Nae;Kim, Sook Za;Ahn, Young Min
    • Clinical and Experimental Pediatrics
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    • v.51 no.4
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    • pp.426-430
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    • 2008
  • We report clinical, cytogenetic, and fluorescence in situ hybridization (FISH) studies of a patient with ring chromosome 9. She presented with failure to thrive, facial dysmorphysm and mild psychomotor development delay in the absence of major malformations. Peripheral blood karyotype of the patient was 46,XX,r(9)(p24q34). G-band analysis suggested no loss of material in the ring chromosomes. FISH analysis using the subtelomere-specific sequences on chromosome 9p and 9q, revealed 46,XX,r(9)(p24q34),ish r(9)(D9S913-,D9S325+). Failure to detect any hybridization of a probe for the subtelomeric sequences in the ring 9p terminal suggested that this ring arose from breakage in the distal short arm. The cytogenetic and FISH data in our case provided further evidence for the existence of a "complete ring" phenotype with incomplete subtelomeric sequences.

A Cytogenetic Study of Amenorrhea (무월경 환자의 세포유전학적인 연구)

  • Lee, Kyung-Soon;Han, Jung-Ho;Moon, Shin-Yong
    • Clinical and Experimental Reproductive Medicine
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    • v.26 no.3
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    • pp.467-474
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    • 1999
  • Objectives: Cytogenetic investigations were carried out on 770 women with primary (n=560) and secondary amenorrhea (n=210) to determine the frequency of chromosomal or genetic causes of amenorrhea. Materials and Methods: In 770 women with primary amenorrhea (n=560) and secondary amenorrhea (n=210), chromosomal analysis were performed. Results: 1) The most prevalent age group is 16-20 years of age group with primary amenorrhea and 26-30 years of age group with secondary amenorrhea. 2) Out of 560 cases of primary amenorrhea, 343 cases (61.3%) had the normal chromosome constitution and 217 cases (38.7%) had the abnormal chromosome constitution including 46,XY. 3) In 217 cases of abnormal chromosome of primary amenorrhea, 57 cases (26.3%) had 45,X and 34 cases (15.8%) had the 46,XY, 24 cases (11.0%) had 45,X/46,X,i (Xq), 23 cases (10.6%) had 45,X/46,X,+mar and 14 cases (6.6%) had 45,X/46,XY. 4) Out of 210 cases of secondary amenorrhea, 181 cases (86.2%) had the normal chromosome constitution and 29 cases (13.8%) had the abnormal chromosome. 5) In 29 cases of abnormal chromosome of secondary amenorrhea, 7 cases (24.1%) had 45,X/46, X,i (Xq), 4 cases (13.8%) had 45,X/46,XX. Conclusion: High percentage of chromosomal abnormalities was diagnosed in primary amenorrhea and most of them were sex chromosome anomalies. In secondary amenorrhea, the prevalence was lower than primary amenorrhea, so a preselection of patients with secondary amenorrhea for cytogenetic investigations seems to be necessary.

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