ABSTRACT
Prenatal genetic screening is offered during pregnancy to detect foetuses that have certain diseases. It is widely used in the detection of congenital malformation which results in foetal birth defects. Unawareness of the society on the importance of prenatal genetic testing contributes to the increase in the birth defect rate.Future parents should be exposed with the importance in performing prenatal genetic screening.The purpose of this study was to examine the knowledge and perception level of International Islamic University Malaysia (IIUM) Kuantan students regarding prenatal genetic screening thalassemia, Down syndrome and neural tube defects.This is a cross-sectional study whereby192 respondents were selected using convenience sampling method. A set of close-ended questionnaire was distributed among students in IIUM Kuantan. Independent t-test, parametric test (One- Way ANOVA test), non-parametric test (Mann-Whitney test) and correlation coefficient (Pearson) were used to find all related factors influencing knowledge and perception and to find association between knowledge and perception of IIUM Kuantan students.From this study, it was found that the level of knowledge and perception of IIUM Kuantan students regarding prenatal genetic screening of thalassemia, Down syndrome and neural tube defects was relatively high. Married students hada betterknowledge compared to unmarriedstudents (p=0.008). Moreover, students from Kulliyyah (Faculty) of Medicine had adequate level of knowledge (p<0.001) and good perception (p=0.003) compared to students from other kulliyyahs. Age and year of study weresignificantly associated with students’ knowledge (p<0.001). In addition, ageand year of study were significantly associated with students’ perception(p=0.03 and p=0.007, respectively). The findings of this study depicted that adequate level of knowledge has ledto a good perception towards prenatal genetic screening among IIUM undergraduate students (p<0.001)
ABSTRACT
MGMT (O6 -Methylguanine-DNA Methyltransferase) suppresses tumor development by removing alkyl adduct, while SPOCK2 (SPARC/Osteonectin CWCV and Kazal-like domains proteoglycan) abolishes the inhibition of membrane-type matrix metalloproteinases (MT-MMP) which leads to angiogenesis. Hence, MGMT methylation may initiate malignant cells transformation. In contrast, SPOCK2 methylation is hypothesized not to be a common event in diffuse large B-cell lymphoma (DLBCL). In this study, we examined the methylation status of MGMT and SPOCK2 in DLBCL as in Malaysia the information is extremely lacking. A total of 88 formalin-fixed paraffin-embedded tissue of patients diagnosed with DLBCL from the year 2006 to 2013 were retrieved from Hospital Universiti Sains Malaysia, Kelantan and Hospital Tengku Ampuan Afzan, Pahang. Methylation-specific polymerase chain reaction (MSP) was used to examine the methylation status of both genes. Interestingly, methylation of MGMT was detected in all the 88 DLBCL samples, whereas SPOCK2 was found to be methylated in 83 of 88 (94.3%) DLBCL cases. Our study showed a remarkably high percentage of promoter methylation of both MGMT and SPOCK2 genes. Our finding also negates initial expectation that SPOCK2 methylation would be an uncommon event in the majority of DLBCL cases. This study has shown a very high percentage of promoter methylation of MGMT and SPOCK2 in the DLBCL cases studied by MSP, using archival lymphoma tissues. Nonetheless, additional research is needed to quantitatively evaluate MGMT and SPOCK2 methylation, and to analyse gene expression and/or protein expression in order to further understand the role of MGMT and SPOCK2 methylation in the pathogenesis of DLBCL.