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A snapshot of the summary - Genes & Genomes
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1 Week 1
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1.1 Lecture
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Name some important reasons why genetic diagnoses are importantHave an explanation, limiting diagnostic circuit, providing treatment, prognosis, information about the disease etc.
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What is a pedigree?A family tree showing symbols to visualise generations, sexes and whether or not being affected by a familiar disease
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In what order are family members drawn in a pedigree?First the patient, partner, children, parents, siblings, nieces/nephews, grandparents/grandchildren, aunts/uncles, cousins etc. Later the partners family may also be included
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How does one recognise dominant inheritance?Many family members having similar symptoms on one side of the family
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What is genotype-phenotype correlation?The correlation between specific mutations and their phenotype. For example knowing that mutations in bp 0-150 have effect X and mutations in bp 150-300 have effect Y etc.
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What are mosaic mutations?Dominant mutations that are not somatic in parents, but do occur in newborns. These have occured in oocytes or sperm cells, meaning they have effect after fertilisation.
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What level of dominance do most mosaic mutations have?These are usually dominant mutations
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How does one recognise recessive inheritance?Affected children are usually born to unaffected parents. Both parents are carriers, 2 carrier parents have a 25% chance to have an affected child
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What is a specific feature of X-linked recessive inherited diseases?Mostly boys are affected, females can be carriers
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Why is it possible for women to have some symptoms of X-linked recessive diseases?Due to the Lyon hypothesis, which states that each cell inactivates one of the X-chromosomes randomly. So roughly 50% of their tissue has an effective mutation
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