Kedokteran Gigi (S1)

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Browsing Kedokteran Gigi (S1) by Subject "844ins68"

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    rs234713 and 844ins68 CBS Gene Polymorphism in Nonsyndromic Orofacial Cleft Patients
    (2022-07-12) SARAH NUR ANNISA WIDODO; Ani Melani Maskoen; Bremmy Laksono
    Introduction : Nonsyndromic orofacial cleft is a result of a complex interaction between genetic and environmental factors. Abnormal folic acid metabolism and genetic variation in the forms of polymorphism are suspected as strong risk factors of orofacial clefts. Cystathionine beta-synthase (CBS) is a gene that codes an enzyme needed for folic acid metabolism and act in the first stage of transsulfuration pathway. This research aims at analyzing rs234713 and 844ins68 CBS gene polymorphism in nonsyndomic orofacial cleft patients in the Indonesian population, especially the Deutero Malay race. Materials and Methods : 46 nonsyndromic CL/P patients and 47 control archived biological material samples were analyzed to detect rs234713 (G>A) and 844ins68 polymorphism. The methods used were PCR-sequencing and PCR-electrophoresis. Results : A statistical analysis of the rs234713 SNP through all subjects, the frequency of the mutant allele A and the wildtype allele G (chi-square value of 0.033; p>0.05) and statistical analysis result of the mutant genotype (GA heterozygous & AA homozygous) and the wildtype GG genotype frequency (chi-square value of 0.195; p>0.05). PCR product showed DNA band of 844ins68 CBS gene with the size was 184 bp in all case and control samples. Conclusion : There is no significant difference in allele and genotype frequencies found between case and control samples at rs234713 SNP analysis. Analysis of the 844ins68 polymorphism showed no 252 bp fragment was found. This indicates there is no insertion of bp 68 in all samples.