scholarly journals Proposed nomenclature for human butyrylcholinesterase genetic variants identified by DNA sequencing

1991 ◽  
Vol 11 (1) ◽  
pp. 79-89 ◽  
Author(s):  
Bert N. La Du ◽  
Cynthia F. Bartels ◽  
Christine P. Nogueira ◽  
Martine Arpagaus ◽  
Oksana Lockridge
Keyword(s):  
Dna Sequencing ◽  
Genetic Variants ◽  
Human Butyrylcholinesterase

(29) New genetic variants of human butyrylcholinesterase in the Brazilian population

2005 ◽  
Vol 157-158 ◽  
pp. 400
Author(s):  
L.R. Mikami ◽  
R.L.R. Souza ◽  
E.A. Chautard-Freire-Maia ◽  
O. Lockridge
Keyword(s):  
Genetic Variants ◽  
Brazilian Population ◽  
Human Butyrylcholinesterase

Genetic Variants of the NOTCH3 Gene in Migraine—A Mutation Analysis and Association Study

Cephalalgia ◽  
2006 ◽  
Vol 26 (2) ◽  
pp. 158-161 ◽  
Author(s):  
S Schwaag ◽  
S Evers ◽  
A Schirmacher ◽  
F Stögbauer ◽  
EB Ringelstein ◽  
...  
Keyword(s):  
Single Nucleotide Polymorphism ◽  
Dna Sequencing ◽  
Association Study ◽  
Association Analysis ◽  
Genetic Variants ◽  
Autosomal Dominant ◽  
Nucleotide Polymorphism ◽  
Single Nucleotide ◽  
Notch3 Gene ◽  
Direct Dna Sequencing

Mutations in the NOTCH3 gene cause cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL). Exons 3 and 4 are mutation hotspots. Migraine is a clinical hallmark of CADASIL. The objective of this study was to investigate whether genetic variants in exons 3 and 4 of the NOTCH3 gene are associated with migraine. Exons 3 and 4 of the NOTCH3 were analysed for mutations and polymorphisms by direct DNA sequencing in 97 migraineurs and the same number of control individuals. No mutations in exons 3 and 4 of the NOTCH3 gene were found in 97 patients with migraine. However, association analysis revealed significant association of the single nucleotide polymorphism (SNP) rs1043994 with migraine.

Expression of three naturally occurring genetic variants (G75R, E90D, I99M) of the BCHE gene of human butyrylcholinesterase

2007 ◽  
Vol 17 (9) ◽  
pp. 681-685 ◽  
Author(s):  
Liya R. Mikami ◽  
Stacy Wieseler ◽  
Ricardo L.R. Souza ◽  
Lawrence M. Schopfer ◽  
Oksana Lockridge ◽  
...  
Keyword(s):  
Genetic Variants ◽  
Naturally Occurring ◽  
Human Butyrylcholinesterase

Genetic classification ofCryptosporidiumisolates from humans and calves in Slovenia

Parasitology ◽  
2008 ◽  
Vol 135 (11) ◽  
pp. 1263-1270 ◽  
Author(s):  
B. SOBA ◽  
J. LOGAR
Keyword(s):  
Dna Sequencing ◽  
Cryptosporidium Parvum ◽  
Genetic Variants ◽  
Variable Region ◽  
First Record ◽  
Zoonotic Transmission ◽  
Genetic Classification ◽  
Direct Dna Sequencing

SUMMARYTo assess the importance of cattle as a source of human cryptosporidial infections in Slovenia,Cryptosporidiumisolates from calves and humans with cryptosporidiosis were characterized genetically by direct DNA sequencing, targeting a variable region of the 60 kDa glycoprotein (gp60) gene. In total, 15 genetic variants, designated ‘subtypes’, were identified, of which 7 were novel. In humans,C. hominisIa (subtype IaA17R3) and Ib (IbA10G2) andCryptosporidium parvumIIa (IIaA9G1R1, IIaA11G2R1, IIaA13R1, IIaA14G1R1, IIaA15G1R1, IIaA15G2R1, IIaA16G1R1, IIaA17G1R1 and IIaA19G1R1), IIc (IIcA5G3), and IIl (IIlA16R2) were recorded; this is the first record of the latter subtype in humans. In cattle,C. parvumIIa (IIaA13R1, IIaA15G2R1, IIaA16R1 and IIaA16G1R1) and IIl (IIlA16R2 and IIlA18R2) were recorded. Of the 15 subtypes identified, subtypes ofC. parvumIIa were the most frequently encountered (>90%) in both humans and calves. The present findings suggest that zoonotic transmission plays an important role in sporadic human cryptosporidiosis in Slovenia.

scholarly journals Development and validation of a targeted next generation DNA sequencing panel outperforming whole exome sequencing for the identification of clinically relevant genetic variants

Oncotarget ◽  
2017 ◽  
Vol 8 (60) ◽  
pp. 102033-102045 ◽  
Author(s):  
Eirwen M. Miller ◽  
Nicole E. Patterson ◽  
Jenna Marcus Zechmeister ◽  
Michal Bejerano-Sagie ◽  
Maria Delio ◽  
...  
Keyword(s):  
Dna Sequencing ◽  
Exome Sequencing ◽  
Whole Exome Sequencing ◽  
Genetic Variants ◽  
Next Generation ◽  
Next Generation Dna Sequencing ◽  
Whole Exome ◽  
Development And Validation

scholarly journals Human Leukocyte Antigen Genetic Variations in Obstructive Sleep Apnea Patients that were positive for HLA-DQB1*0602.

2019 ◽  
Vol 18 (3) ◽  
pp. 473-478
Author(s):  
ThamerA Fattah Al Qatarneh ◽  
Suleiman Mohammad Momany ◽  
Nizar Mohammad Abuharfil ◽  
Amjad Abduallah Mahasneh ◽  
Yousef Saleh Khader ◽  
...  
Keyword(s):  
Obstructive Sleep Apnea ◽  
Sleep Apnea ◽  
Dna Sequencing ◽  
Genetic Variants ◽  
Medical Science ◽  
Human Leukocyte ◽  
Genetic Variations ◽  
P Value ◽  
Obstructive Sleep ◽  
Different Populations

Background: Genetic variations in the HLA system may cause susceptibility to a large number of autoimmune and infectious diseases, and the complexity of HLA makes it hard to investigate HLA types associated with diseases. The association between HLA and Obstructive Sleep Apnea (OSA) is not well investigated due to the complexity of OSA pathogenesis; including genetic and non-genetic in different populations. Our previous study using PCR-SSPs technique showed that HLA-DQB1*0602 allele is associated with almost 6 times increase in risk in North Jordan OSA patients. Aim: The aim of this study was to see if there are any HLA genetic variations using DNA sequencing technique in the region in which HLA-DQB1*0602 is located that might interact with HLA-DQB1*0602 and affect OSA development in OSA patients who were positive for HLA-DQB1*0602 allele. Result: The DNA sequencing results showed 8 nucleotide substitution variations, which are p.G77E (c.230G>A), p.R80R (c.240C>G), p.Q85L (c.254A>T), p.R87P (c.260G>C), p.Y69D (c.205T>G), p.A70V (c.209C>T), p.A70A (c.210G>A), p.Y79Y (c.237C>T). Although only 5 variants resulted in amino acid change, all 8 variants were included in the statistical analysis, and none of these genetic variants was significant (p-value> 0.05). Additionally, eight haplotypes were detected. Some of these haplotypes might have a role in disease development through the interaction with HLA-DQB1*0602 and other genetic variants or could be as markers for OSA by the mechanism of linkage disequilibrium. Conclusion: Further studies are needed to explain the pathogenesis of OSA in terms of possible self or non-self-antigens involved. Bangladesh Journal of Medical Science Vol.18(3) 2019 p.473-478

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