Archibald Garrod was the founder of Human Biochemical genetics. What concept did he originate?
"Inborn errors of Metabolism" (1909)
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Describe Alkaptonuria?
Homogentistic acid accumulates in joints, causing cartilage damage and back pain. Precipitates as kidney stone. high levels are excreted, blackened urine.
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What did Garrod discover about Alkaptonuria genetically?
that it was inherited as a classical, autosomal recessive Mendelian trait.
caused by a single point mutation in the codon for amino acid 6 in the B-globin subunit (of Haemoglobin).
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What does this mutation do?
haemoglobin tetramers containing Hbs tend to form large insoluble polymers which distort erythrocyte shape.
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What is the largest known human gene?
Dystrophin
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What are viral oncogenes?
dominant, gain-of-function mutant alleles of cellular genes.
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In regards to these oncogenes, how can cancer arise?
chromosomal rearrangements that disrupt, truncate or reassemble cellular proto-oncogenes can cause cancer.
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Loss-of-function mutations can cause cancer by inactivation of tumour suppressor genes. Give an example?
Retinoblastoma.
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What is a Retinoblastoma?
a rare retinal tumour that can be either hereditary or non-hereditary.
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Tumours may be 2 types?
unilateral or bilateral.
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Non-hereditary retinoblastomas are typically what?
unilateral. Hereditary retinoblastomas typically bilateral.
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So summarise: what 2 ways can cancer form?
caused by dominant, gain-of-function mutations in Proto-oncogenes. Caused by recessive, loss-of-function mutations in Tumour Suppressor genes.
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What des GWAS mean?
Genome Wide Association Studies.
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How many SNPs are in the human genome?
3 x 10^7.
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What are Genomic imprints?
structural modifications to specific regions of particular chromosomes that prevent the transcription of genes within such regions.- eg. methylation of DNA sequences.
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Other cards in this set
Card 2
Front
Describe Alkaptonuria?
Back
Homogentistic acid accumulates in joints, causing cartilage damage and back pain. Precipitates as kidney stone. high levels are excreted, blackened urine.
Card 3
Front
What did Garrod discover about Alkaptonuria genetically?
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