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Decks in this class (24)
complex genetic diseases
heritability: identify heterogeneity in complex genetic disease, explain how we can estimate the heritability of a common complex disease
5
cards
complex genetic diseases
diabetes: explain how genome-wide SNP association studies are designed and their contribution to our understanding of diabetes risk; explain how increased risk of polygenic disorders may be mediated e.g. single nucleotide polymorphisms, copy number variants; distinguish between monogenic and polygenic diabetes, explain the implications of genetics for clinical management of diabetes
14
cards
chromosomes, chromosome abnormalities and birth defects
congenital defects: explain the classification of congenital defects, and how non-genetic factors may lead to such defects
2
cards
chromosomes, chromosome abnormalities and birth defects
chromosomes and chromosome abnormalities: recall the normal human karyotype, chromosome banding and nomenclature; explain what is meant by the terms “aneuploidy”, “chromosome translocation”, “copy number variant” and their possible biological effects
7
cards
chromosome, chromosome abnormalities and birth defects
Down syndrome: explain how three different chromosome aberrations lead to Down syndrome and the clinical features of that condition
2
cards
chromosome, chromosome abnormalities and birth defects
meiosis: explain the basic principles of meiosis and non-disjunction
4
cards
chromosome, chromosome abnormalities and birth defects
age effects: recognise the increased genetic risks associated with advanced maternal and paternal age
1
cards
chromosome, chromosome abnormalities and birth defects
dosage compensation: define dosage compensation and explain why sex determination is not solely based on sex chromosome karyotype
3
cards
prenatal diagnosis of genetic diseases
Indications for testing: list the indications for referral to Genetics services regarding prenatal testing
6
cards
prenatal diagnosis of genetic diseases
non-invasive versus invasive tests: explain the use of non-invasive tests (maternal serum screening, ultrasound, NIPT) and the use of invasive tests (amniocentesis, chorionic villus sampling)
12
cards
prenatal diagnosis of genetic diseases
reproductive options: explain the reproductive options available, summarise the psychosocial aspects associated with reproductive decision making
5
cards
cancer as a genetic disease
mutations in cancer: explain the difference between somatic and germline mutations, and between driver and passenger mutations; summarise the evidence about the number of mutations of different types found in cancer cells
7
cards
cancer as a genetic disease
oncogenes and tumour suppressor genes: explain what oncogenes and tumour suppressor genes are, and why they are important in cancer
7
cards
cancer as a genetic disease
chromosome rearrangements in cancer: outline the contribution of chromosome rearrangements to the formation of gene fusions and their contribution to oncogenesis; explain how chromosome translocations are used to quantify residual disease in leukaemia
10
cards
monogenic diseases
segregation analysis: explain the utility of familial segregation analysis, summarise a family history by generating a pedigree diagram
8
cards
monogenic diseases
Autosomal dominant effect,
Autosomal dominant examples,
Genetic anticipation definition
9
cards
monogenic diseases
risk assessment: generate a genetic risk assessment based on pedigree analysis
1
cards
monogenic diseases
genetic screening: list two examples of inborn errors of metabolism currently included in UK national neonatal screening programmes, including clinical features and therapeutic management of each condition
4
cards
monogenic diseases
epigenetics and genomic imprinting: explain what is meant by epigenetics; list two specific examples of genomic imprinting disorders, outlining possible mechanisms, clinical features and transmission patterns
12
cards
monogenic diseases
mitochondrial disorders: list two examples of mitochondrial disorders, explaining transmission patterns and the implications of heteroplasmy for counselling
5
cards
monogenic diseases
obesity: list defects in the leptin-melanocortin pathway leading to three forms of monogenic obesity
2
cards
DNA sequencing and personalised medicine
new molecular defects: explain how modern DNA sequencing technology is being used to determine the molecular basis of monogenic diseases
3
cards
DNA sequencing and personalised medicine
personalised/precision medicine: list examples of how advances in genomic medicine may lead to personalised/precision medicine, including the treatment of cancer
3
cards
DNA sequencing and personalised medicine
next generation sequencing: explain the principles of next generation sequencing, and how it differs from Sanger sequencing
5
cards
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MCD Genetics
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