Genetics
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| 🇬🇧 | 🇬🇧 |
| Protein or non coding RNA | Functional gene product |
| Generally regulate gene expression | Non-coding RNA function |
| TRNA, rRNA | Non coding RNA examples |
| Cystic Fibrosis, Huntingtons, Downsyndrome, Fragile X, Thalassaemia | Common genetic disorders |
| Passed down maternally, 1% of DNA | Mitochondrial DNA |
| Diploid (2n) | Somatic cells |
| Haploid (n) | Gametes |
| 99% of DNA, 46 | Chromosomes |
| 1 to 1.5% of all DNA | Protein coding genes |
| Prevents mRNA degradation, regulated translation and nuclear export, promotes intron excision | 5' G cap |
| DNA changes that many of us have (natural variation) | Polymorphisms |
| No effect on functional gene product | Neutral mutation |
| A new or improved function | Advantageous mutation |
| Effect on gene product is deleterious and causes genetic disease | Disadvantageous mutation |
| Type of mutation, Location in gene and Location in protein structure or ncRNA sequence | Mutation effects on product depend on |
| Number of chromosomes changes | Chromosomal mutation |
| Trisomy 21 | Chromosomal mutation example |
| Parts of a chromosome change or are rearranged | Subchromosomal mutation |
| Insertion, deletion, duplication, inversion, translocation | Subchromosomal mutation types |
| Subchromosomal, creates 2 little genes | Deletion mutation |
| Subchromosomal, region is flipped only a problem if in coding or regulatory region | Inversion mutation |
| Small alteration of the DNA sequence | DNA mutation |
| Single nucleotide mutation, insertion or deletions, frameshift, dynamic | DNA mutation types |
| Single nucleotide mutation, synonymous substitution | Silent mutation |
| Single nucleotide mutation, non-synonymous substitution | Missense mutation |
| Single nucleotide mutation, codes for premature stop codon | Nonsense mutation |
| Silent, missense, nonsense, frameshift | Single nucleotide mutation types |
| A small number of bases are inserted or deleted, indels that are not multiples of 3 will cause frameshift mutations | Insertion or deletion mutations |
| Sequence beyond mutation is changed, can often lead to stop codons | Frameshift mutation |
| Expansion of polymorphic DNA repeat sequence beyond a copy number threshold | Dynamic mutation (?) |
| Huntingtons, fragile X | Dynamic mutation examples |
| Abnormal gene products, abnormal regulation or frameshift | Dynamic mutation consequences |
| 10nm configuration, transcriptionally active | Euchromatin |
| 50nm configuration, transcriptionally inactive | Heterochromatin |
| DNA wrapped around a histone | Chromatin |
| Change in response to stimuli | Dynamic chemical modifications of DNA |
| Are passed on to future generations | Stable chemical modification of DNA |
| Genetics deals with a single gene whereas genomics deals with the entire genome | Epigenetics vs Epigenomics |