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Genetics & Genomics
| Question | Answer |
|---|---|
| genetics | study of heredity and variation of inherited characteristics between generations focus on single genes or small group of genes with known functions assists in explaining inherited conditions such as CF |
| genomics | study of the genome (all genetic material belonging to an organism) high-performance computing to uncover DNA variations linked to health and disease |
| organism >>> cells are.. | organ system, organ, tissue, cell the basic unit of construction of all living things |
| nucleus | surrounded by nuclear envelope within cytoplasm oval or spherical holds DNA as chromosomes or chromatin regulates which genes are turned on or off |
| DNA formed by | deoxyribose nucleic acid deoxyribose sugar, phosphate backbone and nitrogenous base |
| nitrogenous base examples pairs | adenine, guanine, thymine, cytosine A with T, C with G |
| how is DNA organised | double helix structure and coils around proteins called histones to form a nucleosome |
| how many chromosomes in somatic human cells how many of these pairs are autosomes and how many the sex chromosomes? | 46 / 23 pairs 22 are autosomes, 1 is the sex chromosome |
| nucleosome | a segment of DNA wrapped around a core of histone proteins |
| chromatin | ac collection of nucleosomes |
| chromosome | during CD, chromatin becomes super coiled and condensed - the x-shaped pattern we call as chromosome |
| chromosomes exist in ______ one from ___ and one from ____ these form ____ | pairs ovum, spermatozoan homologous pairs of chromosomes |
| genes how many genes in human genome? | segments of the DNA containing instructions to form proteins approx 20,000 stored across 23 pairs of chromosomes |
| different versions of the same genes | alleles |
| the combo of alleles for a particular gene | genotype |
| dominant allele recessive allele | UPPER CASE lowercase |
| heterozygous genotype homozygous genotype | 1 dominant 1 recessive allele 2 dominant or 2 recessive alleles |
| phenotype | observable traits resulting from the genotype. influenced by genotype and environment |
| autosomal dominant examples of AD disease inheritance pattern | only one dom allele required to express the trait , usually have parent with same trait huntingtons disease |
| autosomal recessive examples of AR disease inheritance pattern | two recessive alleles required to express the trait , may not have parent with same trait cystic fibrosis |
| the 3 alleles for blood grouping | A,B,O |
| blood grouping rules | A dominent over O B dominant over O A and B codominant O is recessive |
| 6 possible combos of alleles for blood grouping | AA AB BB OB OA OO |
| 4 potential blood groups (phenotypes) | A, B , AB or O |
| if genotype is AO or AA, what will the phenotype be? | bold group A |
| epigenetics epigenetic factors can ... what could they explain? | study of factors influencing gene expression but not caused by changes in the gene sequence suppress or activate gene expression (on/off switch) influence of environmental and lifestyle factors on disease risk |
| main type of epigenetic modification | DNA methylation, histone modification , RNA interference |
| genetic variation examples | forms due to difference in dna between individuals copy number variations, chromosomal abnormalities , insertions or deletions, substitutions, single nucleotide polymorphisms |
| cystic fibrosis where is the gene located? when gene isn't faulty when gene is faulty | arises due to genetic error within a single gene (of several types), the gene is the CFTR gene chromsone 7 produces chloride channels in cells of RT respiratory mucus becomes thick leading to chronic infections & airway inflammation |
| Down's syndrome - due to _____ caused by ___ fertilise egg will have ___ chromosomes every bodily cell has __ copies of chromosome ___ | extra copy of chromosome 21 nondisjunction event during creation of the O or S 47 3, 21 - instead of 2 |
| germline variants are ____ inherited variants are present in _____ approx ____ of cancers are associated with inherited changes to the DNA genes examples what is needed for the disease to develop? | inherited every cell in the body 5-10% BRCA1 and BRCA2 further changes to the DNA |
| somatic variations occur due to.... what are somatic cells? | internal cellular errors or environmental factors like UV light or tobacco smoke any cells in the body expect those of the germline |
| pharmacogenomics variants in genes encoding enzymes can .... | the genome can indicate how specific drugs will be metabolised and their side effects affect their activity, which can inform if a specific drug is suitable for a particular patient |
| how can genomics be used to treat infectious diseases? | microorganisms have a genome and that genomic info can be used to identify, treat and control infection |
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