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.
Introduction: Infertility is a condition which is described by WHO as inability for having children after one year of relationship without birth control. this condition can be caused both from inside and outside the body. One of the major outside factors is exposure to chemical substances, which in this case nicotine substance that came from cigarettes. The CYP2A6 gene is a coding gene for the xenobiotic metabolic enzyme, in this case nicotine which can cause infertility in men. Mutations in this gene can lead to nicotine buildup, increasing nicotine effect thus increasing the risk of infertility in men. The aim of this study was to determine whether there were variations in the CYP2A6 gene in male infertile patients.Methods: The method used was the isolation of infertile and fertile sperm DNA samples (five samples each) which were then amplified at the target DNA (CYP2A6) by PCR method and then sequenced to see the nucleutide sequence.Result: The results of this study showed that there were variations in the CYP2A6 gene that occurred only in infertile patients, heterogeneous mutations in the 7788th(C-A), 8040th (C-T), 7661st (G-C) nucleutide sequence of the CYP2A6 gene and SNP mutations in the 8250th(T>C), 8409th (T>G/C), and 8428th(C>T) nucleutide sequence of the CYP2A6 gene.Conclusion: The conclusion of this study is that there are CYP2A6 variations that found only in infertile male patients.
Abstract-The information of relationship between genetics and cancer in Indonesia, especially colon cancer, is still limited. This study aimed to determine the genetic pattern of colon cancer allele in Fatmawati Hospital, Jakarta -Indonesia. We conducted a case-control study of 40 colorectal cancer patients and 133 volunteers as controls. We observed CYP1A1*2A alleles using RFLP-PCR method. Three milliliters of blood was used to isolate DNA. Our observation showed of the genetic patterns CYP1A1*2A with the incidence of colorectal cancer showed 17 patients were variant-type homozygote and 12 patients were heterozygote type. In this research shown the common of genotyping type CYP1A1*2A of colorectal cancer from the patients are a homozygous variant type.
Abstract-Delta-Aminolevulinic acid dehydratase (ALAD) is an enzyme that catalyzes the condensation of two molleculesThe result showed that 22 subjects (21.6%) had ALAD-1, 71 (69.6%) for ALAD-1/2, and 9 (8.8%) for ALAD-2 genotype. The measurement of hemoglobin levels showed that 41 subjects (40.2%) had normal hemoglobin level and 61 subjects (59.8%) had anemia. Although the measurement of hemoglobin levels showed that anemia was founded with higher frequency in ALAD-1/2 subjects (N=42), we found no significant association between ALAD gene polymorphism and anemia in this study (p-value = 0.908). Further confirmation with a blood lead level measurement is needed.
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