What is the pattern of inheritance for autosomal recessive diseases? A characteristic is determined by a gene located on an autosome and manifests...
What is the pattern of inheritance for autosomal recessive diseases?
A characteristic is determined by a gene located on an autosome and manifests even in a single dose.
The gene that determines it is located on an autosome and manifests only when this gene is present in double dose in the genotype.
Two copies of an abnormal allele are necessary to express an autosomal recessive trait (homozygous).
Both parents are heterozygous and phenotypically normal.
They have a 25% risk of having affected children.
Among unaffected children, the chance of being a carrier is two-thirds.
Heterozygotes are phenotypically normal but are carriers of the trait.
Relatives (consanguinity) have a higher probability of carrying the same mutant allele and having an affected child due to similar genetic material.
A characteristic is determined by a gene located on an autosome and manifests even in a single dose.
The gene that determines it is located on an autosome and manifests only when this gene is present in double dose in the genotype.
Two copies of an abnormal allele are necessary to express an autosomal recessive trait (homozygous).
Both parents are heterozygous and phenotypically normal.
They have a 25% risk of having affected children.
Among unaffected children, the chance of being a carrier is two-thirds.
Heterozygotes are phenotypically normal but are carriers of the trait.
Relatives (consanguinity) have a higher probability of carrying the same mutant allele and having an affected child due to similar genetic material.
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O padrão de herança para doenças autossômicas recessivas é que duas cópias de um alelo anormal são necessárias para expressar uma característica recessiva autossômica (homozigoto). Isso significa que a doença só se manifesta quando o indivíduo herda duas cópias do alelo anormal, uma de cada pai. Ambos os pais são heterozigotos e fenotipicamente normais, o que significa que eles têm uma cópia do alelo anormal e uma cópia normal. Eles têm um risco de 25% de ter filhos afetados e um risco de 50% de ter filhos que são portadores da doença. Parentes consanguíneos têm uma probabilidade maior de carregar o mesmo alelo mutante e ter um filho afetado devido ao material genético semelhante.
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