scholarly journals Estimation of Interaction Effects among Nucleotide Sequence Variants in Animal Genomes

2009 ◽  
Vol 22 (1) ◽  
pp. 124-130
Author(s):  
Chaeyoung Lee ◽  
Younyoung Kim
Chromosoma ◽  
1981 ◽  
Vol 82 (5) ◽  
pp. 595-609 ◽  
Author(s):  
Judy M. Goddard ◽  
Jeffrey N. Masters ◽  
Suzan S. Jones ◽  
William D. Ashworth ◽  
David R. Wolstenholme

2011 ◽  
Vol 39 (No. 4) ◽  
pp. 139-145 ◽  
Author(s):  
A. Elleuch ◽  
M. Marrakchi ◽  
D. Lévesque ◽  
N. Bessais ◽  
PerreaultJP ◽  
...  

We report the nucleotide sequence of Citrus exocortis viroid (CEVd) from a single natural infected citrus tree of the clementinier variety (Citrus clementina) in Tunisia. The sequence variability of this viroid from its natural host without using an alternative passage by an indicator host or an artificial inoculation was found to occur at 14 positions, giving a variability of 3.8%. This work confirms that naturally – occurring viroids belonging to the Pospiviroid genera contain a mixture of sequence variants. In addition, this study confirms the worldwide distribution of this viroid.  


Author(s):  
Y. H. Li ◽  
H. Zhou ◽  
L. Cheng ◽  
J. Zhao ◽  
J. G. H. Hickford

Abstract The current study investigated associations between variation in the bovine perilipin-2 gene (PLIN2) and milk traits (milk fat content, milk protein content, milk yield and milk fatty acid (FA) component levels) in 409 New Zealand pasture-grazed Holstein-Friesian × Jersey-cross (HF × J-cross or Kiwicross™) cows. Five nucleotide sequence variants were found in three regions of the gene, including c.17C>T in exon 2, c.53A>G in exon 3, c.595+23G>A and c.595+104_595+108del in intron 5, and c.*302T>C in the 3′-untranslated region. The c.*302T>C substitution produces two nucleotide sequence variants (A5 and B5), and this variation was associated with variation in milk protein content and milkfat composition for C10:0, C11:0, C12:0, C13:0 and C16:0 FA and medium-chain fatty acid (MCFA) and long-chain fatty acid (LCFA) groups. After correcting for the effect of variation in the diacylglycerol acyl-CoA acyltransferase 1 gene (DGAT1) that results in the amino acid substitution p.K232A, variation in the FA binding protein 4 gene (FABP4) and variation in the stearoyl-CoA desaturase (Δ-9-desaturase) gene (SCD) that results in the amino acids substitution p.A293V, significant differences between A5A5 and B5B5 cows were found for C10:0, C11:0, C12:0, C13:0, C16:0, and the MCFA, LCFA, total saturated FA and C10:1 index groups. This suggests that nucleotide sequence variation in PLIN2 may be affecting milk FA component levels.


2021 ◽  
Author(s):  
Ivan S. Abramov ◽  
Tatyana S. Lisitsa ◽  
Anna M. Stroganova ◽  
Oxana O. Ryabaya ◽  
Anastasiya M. Danishevich ◽  
...  

Background:more than 500 thousand new cases of malignant neoplasms are registered annually in the Russian Federation, of which more than 50 thousand new cases are due to hereditary forms.Improving the diagnosis of these diseases will make it possible to detect tumors in the early stages and take timely preventive and therapeutic measures. Aims:creation of a database and development of software for NGS data analysis for the prevention and early diagnosis of hereditary forms of oncological diseases. Methods:the present study used 636 DNA samples obtained from cancer patients with a high hereditary risk or a burdened family history. DNA was isolated from blood lymphocytes. DNA libraries were prepared with a KAPA Target Enrichment Custom Panel (Roche). The panel included probes for targeted enrichment of the coding region of 44 genes. NGS was performed on the MiSeq platform (Illumina). Results:we identified 65 pathogenic/ probably pathogenic nucleotide sequence variants in 96 patients in theATM, BLM, BRCA1, BRCA2, CHEK2, EPCAM, MEN1, MLH1, MSH2, MSH3, MSH6, MUTYH, PALB2, TP53genes. We also identified 2858 nucleotide sequence variants of unknown clinical significance. Conclusions:we have created a local database that contains both genetic variants and clinical and anamnestic data. The database contains 4763 nucleotide sequence variants at the moment, among which 2522 are unique variants identified in a single patient.


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