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The ITGB3 Genevariant among Sample of Glanzmannthrombasthenia Iraqi Patients

Authors :
Ehab D. Salman
Hayderkareemkataa AL-Aidy¹
Safa A Faraj
Zaid Jamal Mahmood
Source :
Medico-Legal Update.
Publication Year :
2021
Publisher :
Institute of Medico-legal Publications Private Limited, 2021.

Abstract

Case control study was used,with Glanzmann’s thrombasthenia (GT) patients (n=15) and healthy individualcontrol (n=20).It was successfully identified three SNP in ITGB3 gene by using PCR technique and direct sequencing . Thefirst SNP c. * 1479T> C (rs115310198) was presented with three genotypes (TT, TC and CC). The genotypefrequencies of TT in control group (87.6 vs. 95 %) show non-significant difference (p>0.05) compared withGT patients . It was also noticed the frequency of mutant allele (C) revealed non-significant difference (p >0.05) in GT patients compared with controls group (13.3 vs. 2.5%; OR = 6; EF = 0.03; 95% C.I. = 0.65 to55.05) that mean (C) allele is risk factor associated with GT patients .The c.*713A>G (rs2317676) was given with three genotypes (AA, AG and GG) . The frequencies of thesegenotypes show non-significant difference (p>0.05) between control and GT patient,while the mutant allele(G) show non-significant difference (p > 0.05) in GT patients compared with controls group (16.6 vs. 5%;OR = 3.8; EF = 0.4; 95% C.I. = 0.70 to 20.63) and it was risk factors of patient GT. The c.*1016T>A(rs3809865) showed three genotypes (TT, TA and AA) with two alleles (T and A). The frequencies of thesegenotypes TT (87.6 vs. 85 %), TA (6.6vs. 15 %) and the third genotype AA (6.6 vs. 0%) show non-significantdifference (p>0.05) between control and GT patient but the genotype (AA) (OR= 4.24) was considered asrisk factors with GT patients . It was also found the mutant allele (A) revealed non-significant difference (p> 0.05) in GT patients compared with controls group (10 vs. 7.5%;OR = 1.37; EF = 0.11; 95% C.I. =0.26 to7.14). (A) allele(OR = 1.37) is positively associated with GT patients and negatively associated with healthysubject .

Details

ISSN :
09741283 and 0971720X
Database :
OpenAIRE
Journal :
Medico-Legal Update
Accession number :
edsair.doi...........11f5ddb77bf64bf39600b3d8d7842495