It has long been known, from the distribution of multiple amino acid replacements, that not all amino acids of a sequence are replaceable. More recently, the phenomenon was observed at the nucleotide level in mitochondrial DNA even after allowing for different rates of transition and transversion substitutions. We have extended the search to globin gene sequences from various organisms, with th...

It has been proposed that the patterns of mutations in the p53 tumor suppressor gene will provide clues to the mechanisms of cancer occurrence. Cigarette smoking is known to be the greatest risk factor for lung cancer. Epidemiological evidence has also implicated radon and asbestos as exposures that significantly increase this disease risk; asbestos exposure synergistically enhances the lung ca...

Abstract Background The genetic approach to Marfan syndrome (MFS) has evolved over the last few decades, as our understanding of variants’ potential structural and functional consequences. It been proposed that next-generation sequencing be used improve diagnosis patient management. To this end, we a targeted NGS custom panel perform analysis in with MFS his or her family members. Case presenta...

The springtails belongs to the Collembola subclass of insect class. Springtails is a mesofauna that acts as detritivore and bio-indicator in ecosystem. Genetic diversity influenced by total amount genetic variation present genes coding for species or organism. COI gene useful marker mitochondrial DNA. based on mtDNA sequences not widely known Indonesia. Based this, this study aims reveal Malang...

BACKGROUND Surfactant protein abnormalities are rare causes of respiratory distress syndrome. CASE CHARACTERISTICS A late preterm (36 wks) who presented with respiratory distress syndrome. OBSERVATION He was found to be a homozygous for a G to T transversion at the first base in intron 24, of ABCA3 gene which is necessary for lamellar body formation and surfactant production. OUTCOME He d...

A broad range of antibiotics affecting protein biosynthesis were screened for their ability to inhibit growth of the archaeon Halobacterium halobium. Only a few drugs, including chloramphenicol, produced inhibitory effects. Mutants which showed increased resistance to chloramphenicol were isolated; of the nine tested, eight exhibited a C----U transition at position 2471 and the ninth had an A--...

MAP (MutYH-associated polyposis) is a recently described colorectal adenoma and carcinoma predisposition syndrome that is associated with biallelic-inherited mutations of the human MutY homologue gene, MutYH. MutYH is often also termed MYH. MAP tumours display a mutational signature of somatic guanine-to-thymine transversion mutations in the adenomatous polyposis coli and K-ras genes, reflectin...

Spontaneous rifampicin-resistant (RFM(R)) mutants were isolated from Bacillus subtilis 168 cultivated in the presence or absence of oxygen. By DNA sequencing, the mutations were located within Cluster I of the rpoB gene encoding the β subunit of RNA polymerase. The spectrum of RFM(R) rpoB mutations isolated from B. subtilis cells grown anaerobically differed from aerobically grown cells, not on...