Association of SMAD3 Gene rs12901499 Variation with Knee Osteoarthritis in Indonesian Aged Women

Small Mother Against Decapentaplegic 3 (SMAD3), an intracellular transducer protein in the TGF-β signaling pathway, has a role in maintaining joint cartilage. Many studies have been conducted to examine the effect of polymorphism in SMAD3 gene with the incidence of osteoarthritis (OA). The objective of this study is to identify the association of SMAD3 gene rs12901499 variation with the incidence of knee OA in Indonesian women. We conducted an analytic cross-sectional design involving 24 knee OA patients and 50 non-OA subjects. The DNA was taken from saliva and genotyped using a kit from Integrated DNA Technologies with the Real Time PCR method. In this study, we found that the GA genotype (heterozygous mutant) of the rs12901499 allele was the allele that most frequently (50%) appeared in knee OA patients as well as non-OA subjects (50%). The G allele frequency was higher than the A allele among all participants. The Chi-Square analysis showed that there was no statistically significant relationship between allele variations in the SMAD3 rs12901499 gene and knee OA (p=1). In conclusion, there was no statistically significant relationship between the rs12901499 genetic variation in the SMAD3 gene and the incidence of knee osteoarthritis in Indonesian aged women.Small Mother Against Decapentaplegic 3 (SMAD3), protein transduser intraseluler dalam jalur pensinyalan TGF-β, berperan dalam menjaga tulang rawan sendi. Banyak penelitian telah dilakukan untuk menguji pengaruh polimorfisme pada gen SMAD3 dengan kejadian osteoartritis (OA). Tujuan penelitian ini adalah untuk mengidentifikasi hubungan variasi gen SMAD3 rs12901499 dengan kejadian OA lutut pada perempuan berumur di Indonesia. Kami melakukan penelitian dengan desain cross-sectional analitik yang melibatkan 24 pasien OA lutut dan 50 subjek non-OA. DNA diambil dari saliva dan dilakukan pembacaan genotip menggunakan kit dari Integrated DNA Technologies dengan metodeReal Time PCR. Pada penelitian ini, kami menemukan bahwa genotip GA (mutan heterozigot) pada rs12901499 merupakan alel yang paling sering (50%) muncul pada pasien OA lutut maupun subjek non-OA (50%). Frekuensi alel G lebih tinggi daripada alel A di antara semua peserta. Analisis Chi-Square menunjukkan bahwa tidak ada hubungan yang signifikan secara statistik antara variasi alel pada gen SMAD3 rs12901499 dengan OA lutut (p=1). Simpulan, tidak terdapat hubungan yang bermakna secara statistik antara variasi genetik rs12901499 pada gen SMAD3 dengan kejadian osteoartritis lutut pada perempuan berumur di Indonesia. &nbsp

Detection of the SARS-CoV-2 Omicron Variant in COVID-19 Patients from South Tangerang Using SNP-Probes S371L and K417N

The COVID-19 pandemic caused by the SARS-CoV-2 virus has posed a global challenge. Experts from various branches of science have endeavoured to find solutions to control its spread, one of which has been the quick and precise detection of the virus and its variants in patients. This study aimed to detect the presence of SARS-CoV-2, notably the rapidly spreading Omicron variant, using the spike (S)-gene target failure (SGTF) and S-gene target positive (SGTP) with the principle of the single nucleotide polymorphism (SNP)-probe test. Our descriptive experimental approach detected Omicron variants with the SNP-probe technique using samples of SARS-CoV-2 patients and controls. The probes were designed to recognize the nucleotide code of the amino acids in positions 371 and 417 of SARS-CoV-2. The existence of variants was monitored by the presence or absence of a fluorescence signal, which was translated into a sigmoidal graph using a real-time (RT)-PCR machine. One hundred and twelve samples that had tested positive for SARS-CoV-2 and the Omicron variant using a registered commercial kit showed a similar result to our in-house-developed SNP-probe 371 and 417 assays. The results of this study indicate that the SNP-probe we designed can be used in the detection of the SARS-CoV-2 Omicron variant

Analisis mikrodelesi kromosom Y pada pria Oligo Asteno Teratozoospermia (OAT)

Kasus infertilitas dijumpai pada 10-15% pasangan suami istri dan sebanyak 50% diantaranya disebabkan oleh faktor gangguan pada pria. Perkembangan di bidang biologi molekuler berhasil mendeterminasi bahwa mikrodelesi kromosom Y merupakan penyebab penting pada infertilitas pria dan merupakan penyebab genetik kedua terbanyak setelah sindrom Klineferter

The Identification of the SARS-CoV-2 Whole Genome: Nine Cases Among Patients in Banten Province, Indonesia

Severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) is the strain of virus that causes coronavirus disease 2019 (COVID-19), the respiratory illness responsible for the current pandemic. Viral genome sequencing has been widely applied during outbreaks to study the relatedness of this virus to other viruses, its transmission mode, pace, evolution and geographical spread, and also its adaptation to human hosts. To date, more than 90,000 SARS-CoV-2 genome sequences have been uploaded to the GISAID database. The availability of sequencing data along with clinical and geographical data may be useful for epidemiological investigations. In this study, we aimed to analyse the genetic background of SARS-CoV-2 from patients in Indonesia by whole genome sequencing. We examined nine samples from COVID-19 patients with RT-PCR cycle threshold (Ct) of less than 25 using ARTIC Network protocols for Oxford Nanopore’s Gridi On sequencer. The analytical methods were based on the ARTIC multiplex PCR sequencing protocol for COVID-19. In this study, we found that several genetic variants within the nine COVID-19 patient samples. We identified a mutation at position 614 P323L mutation in the ORF1ab gene often found in our severe patient samples. The number of SNPs and their location within the SARS-CoV-2 genome seems to vary. This diversity might be responsible for the virulence of the virus and its clinical manifestation