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| - | ==Molecular and Biochemical Genetics==
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| - | ===Objectives===
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| - | *Important terms:
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| - | **"Incomplete" dominance or "semi-dominant": homozygous individuals have a worse manifestation than heterozygous individuals (achondroplasia).
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| - | **"Distinct disorder": consistent clinical and radiological findings.
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| - | *Important concepts:
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| - | **Types of mutations:
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| - | ***Missense: changed amino acid
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| - | ***Nonsense: introduced stop codon
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| - | ***Neutral / silent: no amino acid change
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| - | ***RNA splicing: gain or loss of splice site
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| - | ***Regulation mutation: affects gene regulation
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| - | ***Indels: gain or loss of one or more bases; leads to frameshift if not a multiple of 3
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| - | ***Repeat expansion: repeated segment (usually 3 bases) expands as nucleotide copy / repair mechanisms get hung up
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| - | **Haploinsufficiency:
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| - | **Dominant-negatie effect:
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| - | *For individual diseases, know: clinical features, mode of inheritance, genes involved / gene defect, pathogenesis, treatment (sometimes)
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| - | ===Review your fundamentals===
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| - | ===Dominant Diseases===
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| - | *Dominant disease are defined as those manifested when only one allele is mutated.
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| - | **Recall that some diseases can be both dominant and negative because of allelic heterogeneity and locus heterogeneity.
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| - | *There are multiple ways we describe a single allele causing disease:
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| - | **Qualitative effects: the protein product gains a function.
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| - | **Quantitative effects: the protein product is broken.
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| - | **Combination of qualitative and quantitative.
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| - | **Others
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| - | *It is important to understand the disease pathogenesis in order to think wisely about treatment.
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| - | ====[[Achondroplasia]]====
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| - | ====[[Osteogenesis imperfecta]]====
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| - | ====[[Ehlers Danlos Syndrome]]====
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| - | ====[[Marfan syndrome]]====
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| - | ====[[Familial Hypercholesterolemia]]====
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| - | ===Recessive Diseases===
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| - | ====[[Homocysteinuria]]====
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qE5m7O Enjoyed every bit of your blog article.Thanks Again. Much obliged.
