Imbalances and loss of heterozygosity (LOH) in endometrial carcinoma detected by array based Copy number variations (aCNV)

2018 ◽  
Author(s):  
A Nusilati ◽  
J Weimer ◽  
K Tiemann ◽  
MB Stope ◽  
A Mustea ◽  
...  
Keyword(s):  
Endometrial Carcinoma ◽  
Loss Of Heterozygosity ◽  
Copy Number ◽  
Copy Number Variations

Copy number variations and loss of heterozygosity identified in myelodysplastic syndrome

2011 ◽  
Vol 204 (8) ◽  
pp. 471
Author(s):  
X. Hu ◽  
A. Iqbal ◽  
A. Ahmed ◽  
G. Raca ◽  
X. Xu ◽  
...  
Keyword(s):  
Myelodysplastic Syndrome ◽  
Loss Of Heterozygosity ◽  
Copy Number ◽  
Copy Number Variations

scholarly journals Somatic mosaicism for copy-neutral loss of heterozygosity and DNA copy number variations in the human genome

BMC Genomics ◽  
2015 ◽  
Vol 16 (1) ◽  
Author(s):  
Olga Žilina ◽  
Marina Koltšina ◽  
Raivo Raid ◽  
Ants Kurg ◽  
Neeme Tõnisson ◽  
...  
Keyword(s):  
Human Genome ◽  
Loss Of Heterozygosity ◽  
Copy Number ◽  
Neutral Loss ◽  
Somatic Mosaicism ◽  
Copy Number Variations ◽  
Dna Copy Number ◽  
Dna Copy Number Variations

scholarly journals Penetrance of WT1 and WT2 Gene Mutation and Loss of Heterozygosity in Wilms tumors in Indian Population

2020 ◽  
Vol 5 (3) ◽  
Keyword(s):  
Gene Mutation ◽  
Loss Of Heterozygosity ◽  
Copy Number ◽  
Wilms Tumor ◽  
Gene Mutations ◽  
Copy Number Variations ◽  
Dna Copy Number ◽  
Pediatric Age Group ◽  
Significant Difference ◽  
Number Variation

Wilms tumor is a nephroblastoma of pediatric age group and heterogeneous in nature. WT1 and WT2 gene mutations are involved in onset of tumorigenesis in syndromic and non syndromic cases of Wilms tumor. Present study has been designed with aim to evaluate the frequency of WT1 and WT2 gene mutation, loss of heterozygosity (LOH) and DNA copy number variation (CNV) in clinically diagnosed cases of Wilms tumor using RT-PCR based analysis. Findings reveals that there was vast difference in the mutation frequency between WT1 (7.5%) and WT2 (17.5) gene, and statistical analysis shows significant difference (p < 0.05) in WT2 mutation and calculated value of C.I. varies between 0.886-1.990 at 95% with odd ratio (7.52). Interestingly, the frequency of LOH (loss of heterozygosity and DNA copy number variations (CNVs) shows significant difference (p < 0.01), suggesting increase of genetic susceptibility and penetrance of gene in proband of the family tumor resulting increase of risk factor after using three different microsatellite DNA markers (DS11S935, DS11S904 and DS11S1363). Genetic heterogenecity were also observed by calculating Tm values, between cases and controls (GAPDH), and C.I. varies between 0.292 - 2.270 at 95% with O.R = 0.54 in D11S1363 and maximum value of C.I. was 1.165-2.165 at 95% with O.R = 0.50 in D11S1905 and the p = 0.194 & p = 0.522 respectively, between cases and controls..

Array based Copy number variations (aCNV) are able to differ classes in endometrial carcinoma

2018 ◽  
Author(s):  
J Weimer ◽  
A Nusilati ◽  
K Tiemann ◽  
MB Stope ◽  
A Mustea ◽  
...  
Keyword(s):  
Endometrial Carcinoma ◽  
Copy Number ◽  
Copy Number Variations

X-linked CNV and skewed X-chromosome inactivation

2020 ◽  
pp. 19-21
Author(s):  
Е.А. Фонова ◽  
Е.Н. Толмачева ◽  
А.А. Кашеварова ◽  
М.Е. Лопаткина ◽  
К.А. Павлова ◽  
...  
Keyword(s):  
Cell Proliferation ◽  
Intellectual Disability ◽  
X Chromosome ◽  
Copy Number ◽  
Copy Number Variations ◽  
X Chromosome Inactivation ◽  
Chromosome Inactivation ◽  
Chromosome X ◽  
Skewed X Chromosome Inactivation

Смещение инактивации Х-хромосомы может быть следствием и маркером нарушения клеточной пролиферации при вариациях числа копий ДНК на Х-хромосоме. Х-сцепленные CNV выявляются как у женщин с невынашиванием беременности и смещением инактивации Х-хромосомы (с частотой 33,3%), так и у пациентов с умственной отсталостью и смещением инактивацией у их матерей (с частотой 40%). A skewed X-chromosome inactivation can be a consequence and a marker of impaired cell proliferation in the presence of copy number variations (CNV) on the X chromosome. X-linked CNVs are detected in women with miscarriages and a skewed X-chromosome inactivation (with a frequency of 33.3%), as well as in patients with intellectual disability and skewed X-chromosome inactivation in their mothers (with a frequency of 40%).

scholarly journals Combination of Genome-Wide Polymorphisms and Copy Number Variations of Pharmacogenes in Koreans

2021 ◽  
Vol 11 (1) ◽  
pp. 33
Author(s):  
Nayoung Han ◽  
Jung Mi Oh ◽  
In-Wha Kim
Keyword(s):  
Copy Number ◽  
Genome Wide Association Study ◽  
Copy Number Gain ◽  
Copy Number Variations ◽  
Gene Gain ◽  
Single Nucleotide Variants ◽  
Single Nucleotide ◽  
Haplotype Blocks ◽  
Genome Wide ◽  
Control And Prevention

For predicting phenotypes and executing precision medicine, combination analysis of single nucleotide variants (SNVs) genotyping with copy number variations (CNVs) is required. The aim of this study was to discover SNVs or common copy CNVs and examine the combined frequencies of SNVs and CNVs in pharmacogenes using the Korean genome and epidemiology study (KoGES), a consortium project. The genotypes (N = 72,299) and CNV data (N = 1000) were provided by the Korean National Institute of Health, Korea Centers for Disease Control and Prevention. The allele frequencies of SNVs, CNVs, and combined SNVs with CNVs were calculated and haplotype analysis was performed. CYP2D6 rs1065852 (c.100C>T, p.P34S) was the most common variant allele (48.23%). A total of 8454 haplotype blocks in 18 pharmacogenes were estimated. DMD ranked the highest in frequency for gene gain (64.52%), while TPMT ranked the highest in frequency for gene loss (51.80%). Copy number gain of CYP4F2 was observed in 22 subjects; 13 of those subjects were carriers with CYP4F2*3 gain. In the case of TPMT, approximately one-half of the participants (N = 308) had loss of the TPMT*1*1 diplotype. The frequencies of SNVs and CNVs in pharmacogenes were determined using the Korean cohort-based genome-wide association study.

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