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Autosomal Inheritance

Essay by   •  January 8, 2018  •  Course Note  •  332 Words (2 Pages)  •  725 Views

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AUTOSOMAL INHERITANCE -  a pattern of inheritance in which the transmission of traits depends on the presence or absence of certain alleles on the autosomes. The pattern may be dominant or recessive, and males and females are usually affected with equal frequency.
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AUTOSOMAL DOMINANT.
- mutated gene is a dominant gene located on one of the non sex chromosomes (autosomes)
- Needed only 1 mutated gene to be affected
- Male - 50% chance of having an affected child with one mutated gene 
- - 50% of having unafffected child with two normal (recessive) gene.

Example Disorder

Huntington' s Dse
- progressive dementia ( a wide range of Sx asstd with decline memory and thinking skils) , choreiform movemet ( repetitive , rapid jerky movt that appears well coordinated), athetosis ( slow, involuntary, convoluted, writhinf movement of fingers, hand , toes , feet)

Neurofibromatosis 1
- multiple neurofiromas ( Cafe au lait spots) 
- Malignant
- Increaze risk of tumor
- Rhabdomyosarcoma > cancer cell

developed in skeletal muscle
- Leukemia

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AUTOSOMAL RESESSIVE 
- 2 copies of a dse/ traits are required for an individual to be susceptible to exxpressing the phenotype.
- Typically the parents are not affected, ONLY CARRIERS
- With each pregnancy : 
There is 1:4 or 25% chance of the offsrping will inherit two copies of the dse.
There is 1:2 or 50% will inherit and copy the dse
There is 1:4 or 25% will not copy, will not express , not at risk, Normal
- M=F 

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