Molecular cytogenetic identification and characterization of a de novo supernumerary neocentromeric derivative chromosome 13

2006 ◽  
Vol 114 (3-4) ◽  
pp. 325-329 ◽  
Author(s):  
H. Tönnies ◽  
A. Gerlach ◽  
B. Heineking ◽  
H. Starke ◽  
H. Neitzel ◽  
...  
Keyword(s):  
De Novo ◽  
Derivative Chromosome ◽  
Chromosome 13 ◽  
Molecular Cytogenetic ◽  
Identification And Characterization

scholarly journals Prenatal diagnosis and molecular cytogenetic characterization of a de novo duplication of 15q24.3-q26.1

2018 ◽  
Vol Volume 11 ◽  
pp. 77-80 ◽  
Author(s):  
Isabel Ochando ◽  
Melanie Cristine Alonzo Martínez ◽  
Ana María Serrano ◽  
Antonio Urbano ◽  
Eduardo Cazorla ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
De Novo ◽  
Molecular Cytogenetic ◽  
Cytogenetic Characterization

Identification and characterization of de novo TP53 mutation carriers in Li-Fraumeni syndrome families: A single institution experience.

2021 ◽  
Vol 39 (15_suppl) ◽  
pp. 10538-10538
Author(s):  
Carlos Christian Vera Recio ◽  
Jessica Corredor ◽  
Elissa Dodd-Eaton ◽  
Angelica M. Gutierrez-Barrera ◽  
Najat C. Daw ◽  
...  
Keyword(s):  
Tp53 Mutation ◽  
De Novo ◽  
De Novo Mutation ◽  
Brier Score ◽  
Li Fraumeni Syndrome ◽  
Mutation Carriers ◽  
Cancer Types ◽  
Li Fraumeni ◽  
Identification And Characterization

10538 Background: Li-Fraumeni syndrome (LFS) is an inherited cancer syndrome mainly caused by a deleterious mutation in TP53. An estimated 48% of LFS patients present due to a deleterious de novo mutation (DNM) in TP53. The knowledge of DNM status, DNM or familial mutation (FM), of an LFS patient requires genetic testing of both parents which is often inaccessible, making de novo LFS patients an understudied population. Famdenovo.TP53 is a Mendelian Risk prediction model used to predict DNM status of TP53 mutation carriers based on the cancer-family history and several input genetic parameters, including disease-gene penetrance. The good predictive performance of Famdenovo.TP53 was demonstrated using data collected from four historical US cohorts. We hypothesize that by incorporating penetrance estimates that are specific for different types of cancers diagnosed in family members, we can develop a model with further improved calibration, accuracy and prediction. Methods: We present Famdenovo.CS, which uses cancer-specific penetrance estimates that were derived previously using a Bayesian semi-parametric competing risk model, to calculate the DNM probability. We use our model to analyze 101 families recently collected from the Clinical Cancer Genetic program at MD Anderson Cancer Center (CCG-TP53) that includes 20 families with known DNM status and 81 families with unknown DNM status. We used the concordance index (AUC), observed:expected ratios (OE) and Brier score (BS) to measure our model’s discrimination, calibration and accuracy, respectively. We estimate the proportion of probands that present a DNM and compare DNM to FM carriers in several areas including: cancer types diagnosed, age at diagnosis, number of primary cancers diagnosed, sex, amino acid change caused by mutation in TP53. Results: Famdenovo.CS showed equally good discrimination and calibration performance to Famdenovo.TP53, while improving the overall accuracy, demonstrated by a decrease in the Brier score of -0.09 (95% CI: [-0.02, -0.19]). Of the 101 probands in the CCG-TP53 cohort, we predict 39 to be DNMs and 62 to be FMs. The cancer types and ages of diagnosis observed in FMs and DNMs are similarly distributed. Conclusions: Famdenovo.CS shows improved model accuracy in the CCG cohort. DNMs in TP53 are a prevalent cause of LFS and we did not find differences in the clinical characteristics of DNM and FM carriers. Our model allows for a systematic identification and characterization of TP53 DNM carriers.

Transcriptome analysis at mid-stage development seeds in litchi with contrasting seed size

2021 ◽  
Author(s):  
Ashish Kumar Pathak ◽  
Ritika Sharma ◽  
Vishal Nath ◽  
Sudhir P Singh ◽  
Rakesh Tuli
Keyword(s):  
Seed Size ◽  
Transcriptome Analysis ◽  
De Novo ◽  
Seed Storage ◽  
Consumer Preference ◽  
Tropical Fruit ◽  
Fruit Processing ◽  
Stage Development ◽  
Identification And Characterization

Abstract Litchi is a sub-tropical fruit crop with contrasting genotypes bearing fruits with variable seed size. Small seed size is a desirable trait in litchi, as it improves consumer preference and facilitates fruit processing. Seed specific transcriptome analysis was performed in two litchi genotypes with contrasting seed size to identify the genes associated with seed development in litchi fruits. The transcriptomic data from seeds at mid- development stages (16 to 28 days after anthesis) were de-novo assembled into 1,39,608 Trinity transcripts. Out of these, 6,325 transcripts expressed differentially between the two contrasting genotypes. Several putative genes for salicylic acid, jasmonic acid and brassinosteriod pathways were down-regulated in the small-seeded litchi. The putative regulators of seed maturation and seed storage were down-regulated in the small-seeded genotype. Embryogenesis, cell expansion, seed size and stress related Trinity transcripts exhibited differential expression. Further studies can lead to identification and characterization of early regulators of seed size in litchi.

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