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An Interesting Proposal - Coggle Diagram
An Interesting Proposal
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Gene abnormalities
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Describe common types of DNA mutations, and how changes in DNA sequence may alter the expression, sequence and function of proteins.
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Constructing a pedigree
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With reference to standard pedigrees, identify and explain the common patterns of inheritance of Mendelian recessive and dominant alleles, and X-linked alleles.
Check if dominant or recessive
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If the inheritance is recessive, ¼ of siblings are usually affected
Check if autosomal or X linked
Check if genders are equally affected. If a disease is X linked more males will be affected as there is no second X chromosome which could “rescue” the defect
If the disease is X linked dominant, all mothers of affected males have to express the disease (sons inherit the Y chromosome from their fathers).
If the disease is X linked dominant, all affected fathers will have healthy sons and affected daughters.
If the disease is X linked dominant, affected mothers will have half of their daughters and sons equally affected.
This is very rare - only males will be affected, they will be affected in every generation. Females are never affected.
Some diseases are not X linked but sex limited. E.g. prostate cancer (this is different to Y linked!)
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