Mendelian Inheritance Flashcards

1
Q

What type of inheritance is Sickle Cell

A

Autosomal Recessive

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2
Q

What type of inheritance is Cystic Fibrosis

A

Autosomal Recessive

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3
Q

Risk of population being a carrier of Cystic Fibrosis gene

A

1/25

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4
Q

If both parents are carriers what is the probability of child having Cystic Fibrosis

A

1/4

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5
Q

If Parents have child with CF they must both be carriers and so the probability of both of them being carriers is

A

M= 1 F=1

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6
Q

The risk of a child being carrier if their sibling has CF

A

2/3

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7
Q

Risk of someone have CF at birth

A

1/4

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8
Q

What type of inheritance is Achondroplasia

A

Autosomal Dominant

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9
Q

What is the chance of a child inheriting Achondroplasia

A

1/2 (50%)

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10
Q

Achondroplasia is Autosomal Dominant which means what type of transmission occurs

A

male to male transmission
A man does not transmit his X chromosome to his sons so that an X-linked disorder cannot be passed from father to son. Usually autosomal recessive disorders affect members of only one generation

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11
Q

Achondroplasia can be_____

A

Inherited (not common) or de novo mutation

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12
Q

What type of inheritance is Huntington’s Disease

A

Autosomal Dominant

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13
Q

What type of inheritance is Duchenne Muscular Dystrophy

A

X-linked

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14
Q

X-linked transmission

A

No male to male transmission

X chromosome of Son is inherited from Mother

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15
Q

What type of inheritance is Haemophlia

A

X-linked recessive

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16
Q

Inheritance transmission of haemophilia

A

Males who have a mutant copy of the factor VII gene will always have haemophilia