scholarly journals Nicholas Gordon Martin

2020 ◽  
Vol 23 (2) ◽  
pp. 72-73
Author(s):  
Georgia Chenevix-Trench
Keyword(s):  
Single Nucleotide Polymorphism ◽  
Association Study ◽  
Cleft Lip ◽  
Cleft Lip And Palate ◽  
Nucleotide Polymorphism ◽  
Single Nucleotide ◽  
Single Nucleotide Polymorphism Association

AbstractWe performed a candidate single-nucleotide polymorphism association study of cleft lip and palate in 1992 which earned more citations than it had subjects (N = 230).

scholarly journals Detection of Single Nucleotide Polymorphism rs2013162 of IRF6 Gene in Patient with Cleft Lip and Palate

2019 ◽  
Vol 3 (1) ◽  
pp. 28-40
Author(s):  
Husnain Shehzad ◽  
Osheen Shehzad
Keyword(s):  
Single Nucleotide Polymorphism ◽  
Cleft Lip ◽  
Cleft Lip And Palate ◽  
Melting Curve ◽  
Nucleotide Polymorphism ◽  
Single Nucleotide ◽  
Pakistani Population ◽  
Irf6 Gene ◽  
High Resolution Melting Curve ◽  
Hardy Weinberg Equilibrium

Abstract: Background: Cleft lip and palate are congenital disorders which induce affected individuals medically, socially and psychologically. The objective of this study was to investigate the association of Single Nucleotide Polymorphism(SNP); rs2013162 of IRF6 Gene in Patient with Cleft Lip and Palate. Materials and Methods: Fifty patients with non-syndromic CL/P were included in present study alongwith fifty individuals with no psychiatric history as controls. In all of the these individuals, search for Single nucleotide polymorphism was carried out by designing sequence specific primers. The sequence was amplified by using Real time PCR and products were investigated by visualizing high resolution melting curve upon HRM-PCR. Results: The logistic regression and Hardy-Weinberg equilibrium were applied to investigate the association of IRF6 SNP rs2013162 with disease. Results revealed no association of this polymorphism with non-syndromic CL/P. Conclusion: We found no association of IRF6 SNP rs2013162 in patients with non-syndromic CL/P. Further study is required with larger sample size to validate the findings of the present study in Pakistani population and along with this SNP other polymorphisms of the same gene should be analyzed to find out the association with the non-syndromic CL/P.

HLA-DRB1*1501 tagging rs3135388 polymorphism is not associated with neuromyelitis optica

2010 ◽  
Vol 16 (8) ◽  
pp. 981-984 ◽  
Author(s):  
Marcelo Matiello ◽  
Janet Schaefer-Klein ◽  
Doralina G Brum ◽  
Elizabeth J Atkinson ◽  
Orhun H Kantarci ◽  
...  
Keyword(s):  
Multiple Sclerosis ◽  
Single Nucleotide Polymorphism ◽  
Association Study ◽  
Neuromyelitis Optica ◽  
Genetic Association Study ◽  
Case Control ◽  
Small Populations ◽  
Nucleotide Polymorphism ◽  
Single Nucleotide ◽  
Nuclease Assay

Background: Association of the HLA-DRB1*1501 allele with multiple sclerosis is well established, but its association with neuromyelitis optica has only been evaluated in small populations. Methods: We performed a case-control genetic association study to evaluate the association of HLA-DRB1*1501 with neuromyelitis optica. The single nucleotide polymorphism rs3135388, which tags HLA-DRB1*1501, was genotyped in 164 patients with neuromyelitis optica, 220 patients with multiple sclerosis and 959 controls matched for age, gender and ethnicity. Genotyping for rs3135388 was performed by Taqman-based 5' nuclease assay. Results: Rs3135388*A was positively associated with multiple sclerosis (OR = 3.93; 95% CI = 2.58—5.97, p = 1.18 × 10-09) but negatively associated with NMO (OR = 0.57; 95% CI = 0.36—0.91, p = 0.01). Conclusions: Multiple sclerosis and neuromyelitis optica differ in their associations with DRB1*1501.

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