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Related Flashcards
Cards In This Set
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How many children are born with a congenital abnormality
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5%
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Name 4 types of genetic disorders
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Single-gene defects
mitochondrial disorders
chromosomal imbalances
multifactorial - genetic and envrionmental
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What are the 2 most common types of genetic disorders
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Autosomal
X-linked
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What are autosomal recessive mutations caused by
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Caused by mutations that result in loss of functional gene
product eg, insertions, deletions, premature stop codons,
frame shift mutations.
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On what chromosome is the cystic fibrosis gene
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Chromosome 7
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What protein does the cystic fibrosis gene normally produce
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Cystic fibrosis transmembrance conductance regulator
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What is the most common defect that causes CF
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Deletion of 3 nucleotides from the gene - normally pheny alanine
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At what position on the chromosome is the phenylalanine amino acid normally located in CF
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Delta F508 on the long arm on chromosome 7
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What is the normal role of the CFTR
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They are in specialised endothelial cells and regulate the passage of Cl- through the cell. Therefore imbalance in salt and water
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What type of inheritance is cystic fibrosis
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Autosomal recessive
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What is the prevalence of CF
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1in2000
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What is consanguinity and why is it a problem
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Partners share at least one ancestor (in the recent past),
or - both parents descended from a common ancestor in the recent past
it can be a problem as it brings recessive alleles into the homozygous state in the offspring. Greatest risk between siblings or parent and child.
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What are the chances that one allele present in one partner is also present in the other partner in incestuous breeding
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0.5
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Give an example of a disease and the population who have a high incidence of recessive disease
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Old order Amish - ellis -van creveld syndrome. Because founded by just 50 couples.
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In consangunious mating a child who is homozygous for a recessive allele, who may he have inherited the allele from
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Both maybe from his great -grandfather or great -grandmother
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