9P Duplication: Role of a multidiagnostic molecular approach in rare chromosomic disorders

2019 ◽  
Vol 493 ◽  
pp. S222
Author(s):  
A.L. Qasem Moreno ◽  
M.D.P. Sanz Martin ◽  
M. Fernandez Villares ◽  
E. Mansilla Aparicio ◽  
M.A. Mori Alvarez ◽  
...  
2010 ◽  
Vol 11 (3) ◽  
pp. 231-244 ◽  
Author(s):  
P. Himadri ◽  
Sarada S. Kumari ◽  
M. Chitharanjan ◽  
S. Dhananjay

Author(s):  
Rishi Kumar Verma ◽  
Manisha Sachan ◽  
Kanchan Vishwakarma ◽  
Neha Upadhyay ◽  
Rohit Kumar Mishra ◽  
...  

Cell ◽  
1981 ◽  
Vol 26 (3) ◽  
pp. 447-454 ◽  
Author(s):  
François Hyafil ◽  
Charles Babinet ◽  
François Jacob

2021 ◽  
Vol 21 (1) ◽  
Author(s):  
Daniel Hosea Haiyambo ◽  
Larysa Aleksenko ◽  
Davies Mumbengegwi ◽  
Ronnie Bock ◽  
Petrina Uusiku ◽  
...  

Abstract Background In a previous study, using a molecular approach, we reported the presence of P. vivax in Namibia. Here, we have extended our investigation to the Duffy antigen genetic profile of individuals of the same cohort with and without Plasmodium infections. Methods Participants with P. vivax (n = 3), P. falciparum (n = 23) mono-infections and co-infections of P. vivax/P. falciparum (n = 4), and P. falciparum/P. ovale (n = 3) were selected from seven regions. Participants with similar age but without any Plasmodium infections (n = 47) were also selected from all the regions. Duffy allelic profile was examined using standard PCR followed by sequencing of amplified products. Sequenced samples were also examined for the presence or absence of G125A mutation in codon 42, exon 2. Results All individuals tested carried the − 67 T > C mutation. However, while all P. vivax infected participants carried the c.G125A mutation, 7/28 P. falciparum infected participants and 9/41 of uninfected participants did not have the c.G125A mutation. The exon 2 region surrounding codon 42, had a c.136G > A mutation that was present in all P. vivax infections. The odds ratio for lack of this mutation with P. vivax infections was (OR 0.015, 95% CI 0.001–0.176; p = 0.001). Conclusion We conclude that P. vivax infections previously reported in Namibia, occurred in Duffy negative participants, carrying the G125A mutation in codon 42. The role of the additional mutation c.136 G > A in exon 2 in P. vivax infections, will require further investigations.


2018 ◽  
Vol 20 (4) ◽  
pp. 421-426
Author(s):  
Mizhgona Sharofova ◽  
◽  
Iman Aldybiat ◽  
Shoista Sagdieva ◽  
Nigora Burkhonova ◽  
...  
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