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Your search keyword '"chromosome nondisjunction"' showing total 3 results
Start Over Descriptor "chromosome nondisjunction" Topic medicine
3 results on '"chromosome nondisjunction"'

1. Prevalence of Some Gene Polymorphisms Related to Early Pregnancy Loss among Russian Women

Author

A. A. M. Ahmed, A. A. Muradian, and M. M. Azova

Subjects
gene polymorphisms, early pregnancy loss, dna methylation, folate cycle, chromosome nondisjunction, Medicine
Abstract

Background. A variety of biological processes regulated by differential gene expression are required to maintain a normal gestation and accordingly, the mutations and polymorphisms in such genes may cause miscellaneous biological disorders that eventually result in early pregnancy loss. Many studies reported that aberrant fetal DNA methylation as well as embryonic chromosome abnormalities may lead to impairment of fetal early growth and development. Therefore, we have aimed to genotype several gene polymorphisms might be involved in the above-mentioned biological disorders to screen their prevalence in Russian population. Materials and methods. 81 Russian women without previous history of normal pregnancy or early abortion were recruited into this population study to determine the genotype and allele frequencies through genotyping using RFLP-PCR method for DNMT3B rs2424913, DNMT3B rs1569686, DNMT3A rs7590760, DNMT1 rs2228611, DNMT1 rs8101626, DNMT3L rs2276248, and DNMT3L rs2070565, allele-specific PCR for SYCP3 T657C, and real-time PCR for MTHFR rs1801133, MTHFR rs1801131, MTR rs1805087, and MTRR rs1801394. Results. Minor homozygous genotypes and minor alleles of the polymorphisms DNMT3B rs2424913 (TT: 11.1%, T: 37.05%), DNMT1 rs2228611 (GG: 18.5%, G: 40.75%), and DNMT1 rs8101626 (GG: 16.0%, G: 40.1%) were quite prevalent in Russian women and as frequent as those of the well-studied polymorphisms: MTRR rs1801394 (GG: 27.2%, G: 50.65%), MTHFR rs1801131 (CC: 17.3%, C: 40.15%), and MTHFR rs1801133 (TT: 11.1%, T: 29.0%).The heterozygous genotype of SYCP3 T657C (CT: 12.3%, T: 6.15%) was also quite frequent. Conclusion. Based on our study and literature data, we suggest that DNMT3B rs2424913, DNMT1 rs2228611, DNMT1 rs8101626, and SYCP3 T657C polymorphisms along with the common folate cycle gene polymorphisms can be potential genetic predictors for early pregnancy loss in Russian women.

Published
2019
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2. Methylenetetrahydrofolate Reductase Dimer Configuration as a Risk Factor for Maternal Meiosis I-Derived Trisomy 21

Author

Bojana Brajenović Milić, Jadranka Vraneković, Iva Bilić Čače, and Ivana Babić Božović

Subjects
Genetics, Down syndrome, Folate, BIOMEDICINE AND HEALTHCARE. Clinical Medical Sciences, BIOMEDICINA I ZDRAVSTVO. Kliničke medicinske znanosti, Functional interference, Chromosome, Chromosome nondisjunction, MTHFR gene polymorphism, Biology, medicine.disease, Nondisjunction, BIOMEDICINE AND HEALTHCARE. Basic Medical Sciences. Human Genetics, Genomics and Proteomics, Polymorphism (computer science), Methylenetetrahydrofolate reductase, biology.protein, medicine, Risk factor, Chromosome 21, Trisomy, BIOMEDICINA I ZDRAVSTVO. Temeljne medicinske znanosti. Genetika, genomika i proteomika čovjeka, Genetics (clinical)
Abstract

Background: Evidence suggests that the dimer configuration of methylenetetrahydrofolate reductase (MTHFR) enzyme might be destabilized by polymorphisms in monomers at the positions C677T and A1298C. It has been observed that these polymorphisms may lead to stable (CCAA, CCAC, CCCC) and unstable (CTAA, CTAC, TTAA) enzyme dimer configurations. Objective: The aim of this study was to evaluate the association of the MTHFR enzyme dimer configuration and folate dietary intake with the stage of meiotic nondisjunction in mothers of children with maternally derived trisomy 21. Methods: A total of 119 mothers of children with maternally derived free trisomy 21 were included in the study. The mean maternal age at the time of the birth of the child with trisomy 21 was 32.3 ± 6.4 (range 16–43) years. All mothers were Caucasian. Parental origin of trisomy 21 and meiotic stage of nondisjunction was determined using short tandem repeat markers spanning from the centromere to the telomere of chromosome 21q. The MTHFR C677T and A1298C polymorphism was evaluated by PCR-RFLP. Results: Increased frequency of the MTHFR genotype combinations CTAA, CTAC, and TTAA was found in the group of mothers with meiosis I (MI) nondisjunction (p = 0.007). No differences were found between study participants regarding dietary and lifestyles habits. Conclusion: The risk for MI nondisjunction of chromosome 21 was 4.6-fold higher in cases who had CTAA, CTAC, and TTAA MTHFR genotype combinations and who did not used folic acid supplements in the preconception period.

Published
2021

3. Chromosome nondisjunction during bipolar mitoses of binucleated intermediates promote aneuploidy formation along with multipolar mitoses rather than chromosome loss in micronuclei induced by asbestos

Author

Xiaohui Ren, Lei Lv, Yun Huang, Qinghua Shi, and Tianwei Zhang

Subjects
0301 basic medicine, Binucleated cells, Mitosis, Aneuploidy, Spindle Apparatus, Biology, Time-Lapse Imaging, binucleated cell, Chromosome segregation, 03 medical and health sciences, 0302 clinical medicine, Nondisjunction, Genetic, Chromosome Segregation, medicine, Humans, In Situ Hybridization, Fluorescence, Micronuclei, Chromosome-Defective, Cell Line, Transformed, Cytokinesis, Cell Nucleus, Genetics, Chromosomes, Human, Pair 12, Chromosome, Asbestos, medicine.disease, Spindle apparatus, Tetraploidy, tetraploid, 030104 developmental biology, Microscopy, Fluorescence, Oncology, Nondisjunction, chromosome nondisjunction, 030220 oncology & carcinogenesis, Micronucleus test, Cancer research, Chromosome Deletion, Research Paper, Chromosomes, Human, Pair 8
Abstract

Asbestos is a well-known occupational carcinogen that can cause aneuploidy during the early stages of neoplastic development. To explore the origins of asbestos-induced aneuploidy, we performed long-term live-cell imaging followed by fluorescence in situ hybridization of chromosomes 8 and 12 in human bronchial epithelial (HBEC) and mesothelial (MeT5A) cells. We demonstrate that asbestos induces aneuploidy via binucleated intermediates resulting from cytokinesis failure. On the one hand, asbestos increases chromosome nondisjunction during bipolar divisions of binucleated intermediates and produces near-tetraploidy. On the other hand, asbestos increases multipolar divisions of binucleated intermediates to produce aneuploidy. Surprisingly, chromosomes in asbestos-induced micronucleated cells are not truly lost by the cells, and do not contribute to aneuploid cell formation in either cell type. These results clarify the cellular source of asbestos-induced aneuploidy. In particular, they show the asbestos-induced disruption of bipolar chromosomal segregation in tetraploid cells, thereby demonstrating the causality between binucleated intermediates and aneuploidy evolution, rather than chromosome loss in micronuclei.

Published
2016
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