Analysis of DNMT1 Gene Polymorphisms in Sporadic Wilms Tumor

To detect two single nucleotide polymorphisms (SNPs) in DNMT1 gene and the expression of corresponding region (1aa-120aa) in Wilms tumor (WT) and normal kidney tissue and analyze the association of polymorphism with clinicopathological parameters. Genomic DNA was extracted from tumor and normal tissues. PCR was used to amplify two SNP sites (rs16999593 and rs75616428 from the coding region of DNMT1). The PCR products were sequenced and genotyped. The protein expression of the first 120 aa of DNMT1 was evaluated by immunohistochemistry. Among 25 cases whose genotypes and gene frequencies studied, 18 cases of heterozygosity and 2 cases of homozygosity were identified. The region of the first 120 aa of DNMT1 was expressed in epithelial cells in normal kidney tissue, but was upregulated in tumors. The rs16999593 polymorphism might be used as a risk factor for WT diagnosis.

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Glutathione-S-transferase isoenzymes in Wilms' tumor and normal kidney tissue.

Acta Biochimica Polonica ◽

10.18388/abp.1993_4886 ◽

1993 ◽

Vol 40 (1) ◽

pp. 186-188 ◽

Cited By ~ 1

Author(s):

J Gajewska ◽

M Szczypka ◽

T Laskowska-Klita

Keyword(s):

Wilms Tumor ◽

Kidney Tissue ◽

Normal Kidney ◽

Glutathione S Transferase ◽

Normal Kidney Tissue

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A Comparison Between Sterological Point Counting and Digitizing Tablets

Proceedings, annual meeting, Electron Microscopy Society of America ◽

10.1017/s0424820100120023 ◽

1985 ◽

Vol 43 ◽

pp. 666-667

Author(s):

John M. Basgen ◽

Eileen N. Ellis ◽

S. Michael Mauer ◽

Michael W. Steffes

Keyword(s):

Electron Microscopy ◽

Kidney Tissue ◽

Volume Density ◽

Diabetic Patients ◽

Normal Kidney ◽

Point Counting ◽

Normal Kidney Tissue ◽

Biopsy Specimens ◽

Mitochondrial Volume ◽

Kidney Lesions

To determine the efficiency of methods of quantitation of the volume density of components within kidney biopsies, techniques involving a semi-automatic digitizing tablet and stereological point counting were compared.Volume density (Vv) is a parameter reflecting the volume of a component to the volume that contains the component, e.g., the fraction of cell volume that is made up of mitochondrial volume. The units of Vv are μm3 /μm3.Kidney biopsies from 15 patients were used. Five were donor biopsies performed at the time of kidney transplantation (patients 1-5, TABLE 1) and were considered normal kidney tissue. The remaining biopsies were obtained from diabetic patients with a spectrum of diabetic kidney lesions. The biopsy specimens were fixed and embedded according to routine electron microscogy protocols. Three glomeruli from each patient were selected randomly for electron microscopy. An average of 12 unbiased and systematic micrographs were obtained from each glomerulus and printed at a final magnification of x18,000.

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Binding of epidermal growth factor and insulin-like growth-factor I in renal carcinoma and adjacent normal kidney tissue

International Journal of Cancer ◽

10.1002/ijc.2910430612 ◽

1989 ◽

Vol 43 (6) ◽

pp. 1029-1033 ◽

Cited By ~ 14

Author(s):

Fredrika Pekonen ◽

Seppo Partanen ◽

Eeva-Marja Rutanen

Keyword(s):

Growth Factor ◽

Epidermal Growth Factor ◽

Renal Carcinoma ◽

Kidney Tissue ◽

Insulin Like Growth Factor ◽

Normal Kidney ◽

Factor I ◽

Normal Kidney Tissue ◽

Epidermal Growth ◽

Growth Factor I

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Screening of Three Different Alleles of mtDNA (G709A, G3496T, A3537G) in Subpopulation of UKM Students

Malaysian Journal of Medical and Biological Research ◽

10.18034/mjmbr.v5i1.447 ◽

2018 ◽

Vol 5 (1) ◽

pp. 37-40

Author(s):

Seri Mirianti Ishar ◽

Jeyaganesan Pillay a/l Balaraman ◽

Muhammad Jefri Mohd Yusof ◽

Khairul Osman ◽

Lee Loong Chuen

Keyword(s):

Uv Light ◽

Forensic Genetics ◽

Nucleotide Polymorphisms ◽

Coding Region ◽

Documentation System ◽

Single Nucleotide ◽

National University ◽

Pcr Products ◽

Malay Population ◽

Mutation Allele

Human DNA consists of nucleus DNA (nDNA) and mitochondrial DNA (mtDNA). Both are valuable in medicine and forensic genetics but in this project, single nucleotide polymorphisms (SNPs) in mtDNA are used to trace the mutation occurred. Mutations in the sequence of alleles can lead to haplogroup variation and also certain diseases. The purpose of this study is to screen of mutations on alleles G709A, G3496T, and A3537G in Malay population of The National University of Malaysia (UKM) students. These SNPs lie in the ND1 (nitrogen dehydrogenase subunit 1) coding region, and the reports state that these three alleles are prone to mutate. From MitoMap Web site, the mutations of these alleles are reported to have potential in causing several diseases with the collaboration of other SNPs mutation. Allele G709A is reported to have an association with hearing loss and Leber Hereditary Optic Neuropathy (LHON) while allele G3496T is associated to LHON only. Allele A3537G is related to diabetes. A total of 100 DNA samples were collected from Malay students of UKM and preserved on FTA card to be purified later. The concentration of the DNA on the purified FTA card was between 10μM to 20μM. An attempt was made by amplifying those three loci from the genomic DNA. The amplified product was detected and separated using 1% gel electrophoresis. Before sequencing, the PCR products were visualized under UV light using gel documentation system. All PCR products were sequenced to detect the mutation on every single position chosen. From the alignment of sequencing results, allele G709A and allele G3496T showed no mutation. Meanwhile four samples from alleles A3537G has the mutation. From the results obtained, it seems that mutations are rare in all selected alleles. It is recommended to increase the sample size and alleles selected in the future to increase the strength of the study. This study also should be applied to other populations in Malaysia such as Chinese and Indian.

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