Understanding Autosomal Recessive Inheritance and Genetic Disorders
Explore the complexities of autosomal recessive inheritance, loss of function, genetic disorders, and DNA analysis through a series of informative visual slides.
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Presentation Transcript
Autosomal recessive inheritance ( ( ) ) A a A A A a a a , 50
1. p 2. p (1- -p) 3. 4. 1/ /4 5. p p/ /4 6. q p=2 q 40,000 ( ) 1/100
1. 1. = =von Gierke GM1 Tay-Sachs Niemann-Pick Krabbe Fabry X X Hurler Schieie Sanfilippo Maroteaux-Lamy - - Hunter X X ( ( Wilson Crigler-Najjar Dubin-Johnson Gilbert = =Pompe Gaucher ( ( ) ) Morquio ) ) Roter 2. 2.
a aa 1 1 ( ) a A Aa Aa 1 3 (aa) (Aa) (Aa) AR-1 AR-2 AR-3 a a A AA AA a A AA Aa a Aa Aa Aa Aa A A A Aa Aa Aa aa (AA) (AA) (Aa) A A a
a aa 1 1 ( ) a A Aa Aa 1 3 AA Aa AA Aa AA Aa Aa AA AA Aa AA Aa Aa AA Aa AA AA aa Aa AA aa AA Aa Aa Aa Aa Aa
1. AA Aa 2. 3. AA Aa AA Aa Aa AA AA Aa AA Aa Aa AA Aa AA AA aa Aa AA aa AA Aa Aa Aa Aa Aa A A A a a a
