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Retinitis pigmentosa inheritance

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Answer:

Retinitis pigmentosa (RP) can be inherited in an autosomal dominant, autosomal recessive, or X-linked manner. The mode of inheritance in a particular family is determined by evaluating the family history and, in some instances, by molecular genetic testing. There are many potential complications in interpreting the family history, so in some cases, identifying the responsible gene with genetic testing is needed.

Autosomal dominant inheritance means that having a change (mutation) in only one copy of the responsible gene in each cell is enough to cause features of the condition. In some cases, an affected person inherits the mutated gene from an affected parent. In other cases, the mutation occurs for the first time in a person with no family history of the condition. When a person with a mutation that causes an autosomal dominant condition has children, each child has a 50% chance to inherit that mutation.

Autosomal recessive inheritance means that to be affected, a person must have a mutation in both copies of the responsible gene in each cell. Affected people inherit one mutated copy of the gene from each parent, who is referred to as a carrier. Carriers of an autosomal recessive condition typically are unaffected. When 2 carriers of an autosomal recessive condition have children, each child has a:

25% chance to be affected

50% chance to be an unaffected carrier like each parent

25% chance to be unaffected and not a carrier

X-linked inheritance means that the responsible gene is located on the X chromosome. Males have one X chromosome (and one Y chromosome), while females have two X chromosomes. Males who have a mutation on their X chromosome will be affected, while female carriers of the mutation may be affected or unaffected, because they have another X chromosome with a normal copy of the gene.

All the daughters of an affected male will inherit the mutation; none of his sons will inherit the mutation.

The sons of a female with a mutation have a 50% chance to inherit the mutation and be affected; the daughters have a 50% chance to inherit the mutation (and be affected or unaffected).

Step-by-step explanation:

User Thomas Mary
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2 votes

Answer:

Retinitis pigmentosa often has an autosomal dominant inheritance pattern, which means one copy of an altered gene in each cell is sufficient to cause the disorder. Most people with autosomal dominant retinitis pigmentosa have an affected parent and other family members with the disorder.

Step-by-step explanation:

User Federico Panunzio
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