Homogeneous and label-free bioluminescence detection of single nucleotide polymorphism with rolling circle amplification

The Analyst ◽  
2008 ◽  
Vol 133 (6) ◽  
pp. 750 ◽  
Author(s):  
Yongqiang Cheng ◽  
Zhengping Li ◽  
Baoan Du ◽  
Xian Zhang
Keyword(s):  
Single Nucleotide Polymorphism ◽  
Rolling Circle Amplification ◽  
Label Free ◽  
Nucleotide Polymorphism ◽  
Single Nucleotide ◽  
Rolling Circle

Wide diversity of PAX5 alterations in B-ALL: a Groupe Francophone de Cytogénétique Hématologique study

Blood ◽  
2010 ◽  
Vol 115 (15) ◽  
pp. 3089-3097 ◽  
Author(s):  
Etienne Coyaud ◽  
Stephanie Struski ◽  
Nais Prade ◽  
Julien Familiades ◽  
Ruth Eichner ◽  
...  
Keyword(s):  
Lymphoblastic Leukemia ◽  
Rolling Circle Amplification ◽  
High Variability ◽  
Comparative Genomic ◽  
Fusion Genes ◽  
Nucleotide Polymorphism ◽  
Single Nucleotide ◽  
Rolling Circle ◽  
Rapid Amplification ◽  
Innovative Techniques

Abstract PAX5 is the main target of somatic mutations in acute B lymphoblastic leukemia (B-ALL). We analyzed 153 adult and child B-ALL harboring karyotypic abnormalities at chromosome 9p, to determine the frequency and the nature of PAX5 alterations. We found PAX5 internal rearrangements in 21% of the cases. To isolate fusion partners, we used classic and innovative techniques (rolling circle amplification-rapid amplification of cDNA ends) and single nucleotide polymorphism-comparative genomic hybridization arrays. Recurrent and novel fusion partners were identified, including NCoR1, DACH2, GOLGA6, and TAOK1 genes showing the high variability of the partners. We noted that half the fusion genes can give rise to truncated PAX5 proteins. Furthermore, malignant cells carrying PAX5 fusion genes displayed a simple karyotype. These data strongly suggest that PAX5 fusion genes are early players in leukemogenesis. In addition, PAX5 deletion was observed in 60% of B-ALL with 9p alterations. Contrary to cases with PAX5 fusions, deletions were associated with complex karyotypes and common recurrent translocations. This supports the hypothesis of the secondary nature of the deletion. Our data shed more light on the high variability of PAX5 alterations in B-ALL. Therefore, it is probable that gene fusions occur early, whereas deletions should be regarded as a late/secondary event.

CNT-Based Label-Free Electrochemical Sensing of Native DNA with Allele Single Nucleotide Polymorphism

2018 ◽  
Vol 52 (14) ◽  
pp. 1836-1838
Author(s):  
H. V. Grushevskaya ◽  
N. G. Krylova ◽  
I. V. Lipnevich ◽  
A. S. Babenka ◽  
V. P. Egorova ◽  
...  
Keyword(s):  
Single Nucleotide Polymorphism ◽  
Electrochemical Sensing ◽  
Label Free ◽  
Nucleotide Polymorphism ◽  
Single Nucleotide
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