• Title/Summary/Keyword: Aneuploidy

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Chromosome Imbalances and Alterations in the p53 Gene in Uterine Myomas from the Same Family Members: Familial Leiomyomatosis in Turkey

  • Hakverdi, Sibel;Demirhan, Osman;Tunc, Erdal;Inandiklioglu, Nihal;Uslu, Inayet Nur;Gungoren, Arif;Erdem, Duygu;Hakverdi, Ali Ulvi
    • Asian Pacific Journal of Cancer Prevention
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    • v.14 no.2
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    • pp.651-658
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    • 2013
  • Uterine leiomyomas (UL) are extremely common neoplasms in women of reproductive age, and are associated with a variety of characteristic choromosomal aberrations (CAs). The p53 gene has been reported to play a crucial role in suppressing the growth of a variety of cancer cells. Therefore, the present study investigated the effects of CAs and the p53 gene on ULs. We performed cytogenetic analysis by G-banding in 10 cases undergoing myomectomy or hysterectomy. Fluorescence in situ hybridization (FISH) with a p53 gene probe was also used on interphase nuclei to screen for deletions. In patients, CAs were found in 23.4% of 500 cells analysed, significantly more frequent than in the control group (p<0.001). In the patients, 76% of the abnormalities were structural aberrations (deletions, translocations and breaks), and only 24% were numerical. Deletions were the most common structural aberration observed in CAs. Among these CAs, specific changes in five loci 1q11, 1q42, 2p23, 5q31 and Xp22 have been found in our patients and these changes were not reported previously in UL. The chromosome breaks were more frequent in cases, from high to low, 1, 2, 6, 9, 3, 5, 10 and 12. Chromosome 22, X, 3, 17 and 18 aneuploidy was observed to be the most frequent among all numerical aberrations. We observed a low frequency of p53 losses (2-11%) in our cases. The increased incidence of autosomal deletions, translocations, chromatid breaks and aneuploidy, could contribute to the progression of the disease along with other chromosomal alterations.

Chromosomal Studies of Fusarium oxysporum and its formae speciales (II) (Fusarium oxysporum 및 분화형(分化型)의 염색체에 관한 연구(II))

  • Min, Byung-Re
    • The Korean Journal of Mycology
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    • v.17 no.2
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    • pp.76-81
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    • 1989
  • The mitotic nuclear divisions in hyphae and chromosome number in 10 strains of Fusarium oxysporum were studies with the aid of Giemsa-HCl techniques. The chromosome number of fungi was ranged from 4 to 8. Of the 10 strains (F. oxysporum f. sp. lycoperici, F. oxysporum Kangnung D2) are n=4; two (F. oxysporum Sachun3, F. oxysporum S Kohung D2) n=5; five (F. oxysporum S Kohung 3, F. oxysporum CS Hongchun D16, F. oxysporum S Bosung 5, F. oxysporum SSunchun4 and F. oxysporum S Haenam 4) n=7 and one (F. oxysporum from the Australia) are n=8. These results along with my previous papers indicate that the basic chromosome number of the F. oxysporum may be n=4 and may have been evolutionary modification within this fugal group through diploidy and aneuploidy. As additional strains are studied, the chromosome number should help to reveal steps possible phylogenetic relationship within the group as well as more clearly defining taxonomic group and variation factors.

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Chromosomal Studies on the Genus Fusarium (Fusarium속의 염색체 분석)

  • 민병례
    • Korean Journal of Microbiology
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    • v.27 no.4
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    • pp.342-347
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    • 1989
  • by use of HCl-Giemsa technique and light microscope, dividing vegetative nuclei in hyphae of Fusarium species were observed and the results are summerized. The chromosome number of these fungi was ranged 4 to 8. Of the 20 strains, the highest haploid chromosome number is 8 in F. solani S Hongchun K4, F. moniliforme (from banana) and F. raphani (from radish). The lowest is 4 in F. sporotrichioides NRRL 3510 and F. equiseti KFCC 11843 IFO 30198. F. solani 7468 (from Sydney), F. solani 7475 (from Sydney), F. oxysporum(from tomato). F. roseum (from rice), F. sporotrichioides C Jngsun 1, F. equiseti C Kosung 1 and F. avenaceum 46039 are n=7. F. moniliforme (from rice) F. graminearum, F. proliferatum 6787 (from Syndey), F. proliferatum 7459 (from Synder) and F. anguioides ATCC 20351 are n=6. F. moniliforme NRRL 2284, F. poae NRRL 3287 and F. trincinctum NRRL 3299 are n=5. From these results, it may be concluded that the basic haploid chromosome number of the genus Fusarium is 4 and mat have been evolutionary variation of chromosome number through aneuploidy and polyploidy.

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Preimplantation Genetic Diagnosis for Aneuploidy Screening in Patients with Poor Reproductive Outcome (염색체 이수성과 관련된 비정상적 임신이 예상되는 환자에서 착상전 유전진단의 결과)

  • Kim, Jin Yeong;Lim, Chun Kyu;Cha, Sun Hwa;Park, Soo Hyun;Yang, Kwang Moon;Song, In Ok;Jun, Jin Hyun;Park, So Yeon;Koong, Mi Kyoung;Kang, Inn Soo
    • Clinical and Experimental Reproductive Medicine
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    • v.33 no.3
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    • pp.179-187
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    • 2006
  • Objectives: The risk of aneuploidies of embryos increases in advanced maternal age or parental karyotype abnormality and it results in poor reproductive outcomes such as recurrent spontaneous abortion (RSA) or repeated implantation failure (RIF). Preimplantation genetic diagnosis for aneuploidy screening (PGD-AS) can be applied for better ART outcome by selecting chromosomally normal embryos. The aim of this study is to evaluate the clinical outcome of PGD-AS and which group can get much benefit from PGD-AS among the patients expected to have poor reproductive outcome. Methods: In 42 patients, 77 PGD cycles were performed for aneuploidy screening. Patients were allocated to 3 groups according to the indication of PGD-AS: group I-patients with old age (${\geq}37$) and RIF more than 3 times (n=11, mean age=42.2 yrs.), group II-patients with RSA (${\geq}3$ times) associated with aneuploid pregnancy (n=19, mean age=38.9 yrs.), group III-parental sex chromosome abnormality or mosaicism (n=18, mean age=29.6 yrs.) including Turner syndrome, Klinefelter syndrome and 47, XYY. PGD was performed by using FISH for chromosome 13, 16, 18, 21, X and Y in group I and II, and chromosome X, Y and 18 (or 17) in group III. Results: Blastomere biopsy was successful in 530 embryos and FISH efficiency was 92.3%. The proportions of transferable embryos in each group were $32.5{\pm}17.5%$, $23.0{\pm}21.7%$ and $52.6{\pm}29.2%$ (mean ${\pm}$ SD), respectively, showing higher normal rate in group III (group II vs. III, p<0.05). The numbers of transferred embryos in each group were $3.9{\pm}1.5$, $1.9{\pm}1.1$ and $3.1{\pm}1.4$ (mean ${\pm}$ SD), respectively. The clinical pregnancy rates per transfer was 0%, 30.0% and 20.0%, and it was significantly higher in group II (group I vs. group II, p<0.05). The overall pregnancy rate per transfer was 19.6% (10/51) and the spontaneous abortion rate was 20% (2/10) of which karyotypes were euploid. Nine healthy babies (one twin pregnancy) were born with normal karyotype confirmed on amniocentesis. Conclusion: Our data suggests that PGD-AS provides advantages in patients with RSA associated with aneuploidy or sex chromosome abnormality, decreasing abortion rate and increasing ongoing pregnancy rate. It is not likely to be beneficial in RIF group due to other detrimental factors involved in implantation.

Cohesin gene mutations in tumorigenesis: from discovery to clinical significance

  • Solomon, David A.;Kim, Jung-Sik;Waldman, Todd
    • BMB Reports
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    • v.47 no.6
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    • pp.299-310
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    • 2014
  • Cohesin is a multi-protein complex composed of four core subunits (SMC1A, SMC3, RAD21, and either STAG1 or STAG2) that is responsible for the cohesion of sister chromatids following DNA replication until its cleavage during mitosis thereby enabling faithful segregation of sister chromatids into two daughter cells. Recent cancer genomics analyses have discovered a high frequency of somatic mutations in the genes encoding the core cohesin subunits as well as cohesin regulatory factors (e.g. NIPBL, PDS5B, ESPL1) in a select subset of human tumors including glioblastoma, Ewing sarcoma, urothelial carcinoma, acute myeloid leukemia, and acute megakaryoblastic leukemia. Herein we review these studies including discussion of the functional significance of cohesin inactivation in tumorigenesis and potential therapeutic mechanisms to selectively target cancers harboring cohesin mutations.

BENZENE INDUCED CHROMOSOME ABERRATIONS AND THE ASSOCIATION WITH GENETIC POLYMORPHISM

  • Kim, Su-Young;Cho, Yoon-Hee;Jung, Eun-Jung;Park, Jung keun;Paek, Do-Myung;Chung, Hai-Won
    • Proceedings of the Korean Society of Toxicology Conference
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    • 2002.05a
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    • pp.66-66
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    • 2002
  • This study was done to examine the benzene induced chromosomal aberrations and also the influence of genetic polymorphism(GSTM1, GSTT1, GSTP1, NAT2, NQO1, CYP2E1 and CYP1A1) on the chromosomal aberrations. In total, 82 benezene exposed workers and 76 matched controls were examined.(omitted)

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Prenatal diagnosis of 5p deletion syndrome: A case series report

  • Han, You Jung;Kwak, Dong Wook
    • Journal of Genetic Medicine
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    • v.14 no.1
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    • pp.34-37
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    • 2017
  • 5p deletion syndrome, also known as Cri-du-Chat syndrome, is a chromosomal abnormality caused by a deletion in the short arm of chromosome 5. Clinical features of 5p deletion syndrome are difficult to identify prenatally by ultrasound examination, thus most cases of 5p deletion syndrome have been diagnosed postnatally. Here, we report eight cases of 5p deletion syndrome diagnosed prenatally, but were unable to find common prenatal ultrasound findings among these cases. However, we found that several cases of 5p deletion syndrome were confirmed prenatally when karyotyping was performed on the basis of abnormal findings in a prenatal ultrasound scan. Hence, it is necessary to carefully perform prenatal ultrasonography for detection of rarer chromosomal abnormalities as well as common aneuploidy.

Karyotypic Analysis of Chicken Grunt, Parapristipoma trilimeatum, Small Yellow Croaker, Larimichthys polyactis, and Brown Croaker, Miichthys miiuy

  • Park, In-Seok;Gil, Hyun Woo
    • Development and Reproduction
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    • v.23 no.1
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    • pp.73-78
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    • 2019
  • To clarify the cytogenetic features of the chicken grunt, Parapristipoma trilineatum, small yellow croaker, Larimichthys polyactis, and brown croaker, Miichthys miiuy, in Jeju, Korea, karyotype analysis was performed. The karyotype of chicken grunt and brown croaker consists of 24 pairs of telocentrics [2n=48, fundamental number (FN)=48], and small yellow croaker consists of 3 pairs of submetacentrics and 21 pairs of telocentrics (2n=48, FN=54). No evidence of polymorphism, including aneuploidy or sex-related heteromorphic chromosomes, was found in any specimens examined in this study.

Superovulation-Oocyte and Uterine Function (과배란-난자 및 자궁기능)

  • 문영석
    • Korean Journal of Animal Reproduction
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    • v.20 no.4
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    • pp.379-384
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    • 1997
  • Superovulation with exogenous gonadotropins creates a spectrum of pre or periovulatory hormonal changes with subsequent detrimental effects on oocyte quality, fertilization, embryo development, implantation and maintenance of pregnancy. Our recent study determined potential roles for insulin-like growth factor-1 (IGF-1) in uterine environment regulation and preimplant tation in the rat. The evidence indicates that IGF-l may play an important role in the main tenance of a receptive uterine environment for embryonic development and the regulation of decidualization. Embryonic loss and failure of implantations following superovulation may be partially attributed to disturbances in uterine IGF-l action as observed in this study. We investigated the effects of superovulatory doses of gonadotropins on frequency of chromosomal a abnormalities of mouse embryos. Chromosome a analysis of mouse zygotes and 8- to 16-cell stage embryos from spontaneously ovulated, 5, 10, and l 15 lU pregnant mare serum gonadotropin (PMSG) superovulated mice was carried out. Aneuploidy, polyploidy and structural chrom- osomal abnormalities were detected among the four groups. However, only polyploidy was correlated with superovulation. In 10 and 15 IV PMSG treated groups, the rate of polypoidy was 2.9% and 10.5%, respectively. Furthermore, there was a dose reponse relationship between the PMSG dose and the incidence of embryonic p polyploidy (P

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