Autosomal Dominant and Recessive Inheritance

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What proportion of known Mendelian disorders are inherited as autosomal dominant traits?

More than half (correct)

Less than one quarter

Exactly one quarter

One third

What is the chance of a child inheriting the affected allele if one parent is heterozygous (D/d) and the other is homozygous for the normal allele (d/d)?

75%

25%

50% (correct)

100%

What is the genotype of offspring of two affected individuals (D/d) 25% of the time?

D/D (correct)

D/d

d/d

d/D

What can limit the observation of individuals with a homozygous genotype for a dominant phenotype?

Early lethality of the phenotype Signup and view all the answers

How can X-linked disorders be classified?

As either X-linked dominant or recessive Signup and view all the answers

What is the characteristic of X-linked recessive conditions?

They are expressed only in hemizygotes Signup and view all the answers

What is the main feature of mitochondrial inherited diseases?

They do not show patterns typical of Mendelian inheritance Signup and view all the answers

What is pleiotropy in the context of mitochondrial disorders?

A single genetic variant leads to a range of clinical manifestations across different tissues and organs in the body Signup and view all the answers

What is the process by which the mitochondrial genome is inherited from mother to offspring?

Maternal inheritance Signup and view all the answers

What is homoplasmy and heteroplasmy in the context of mtDNA inheritance?

States of mitochondrial DNA where all or some of the mitochondrial DNA molecules are identical or different Signup and view all the answers

What is the condition for autosomal recessive diseases to occur in an individual?

When an individual has pathogenic variants on both inherited alleles and no wild-type allele. Signup and view all the answers

What is the risk of transmitting autosomal recessive disorders when both parents are carriers?

25% Signup and view all the answers

What is the genotype of an individual who is a carrier of an autosomal recessive disorder?

Heterozygous Signup and view all the answers

What is the phenotype of an individual who is a carrier of an autosomal recessive disorder?

Unaffected by the disease Signup and view all the answers

What is the result when both parents have the same autosomal recessive disorder?

Offspring will always be affected Signup and view all the answers

What is the term for the expression of an individual's genotype as observable traits?

Phenotype Signup and view all the answers

What is the term for having identical alleles at a locus?

Homozygosity Signup and view all the answers

What type of disorders are determined by alleles at a single locus and follow Mendelian inheritance patterns?

Single-Gene Disorders Signup and view all the answers

What is the term for an individual who inherits two different mutant alleles of a gene, one from each parent?

Compound Heterozygote Signup and view all the answers

What is unique about mitochondrial DNA genotypes in terms of terminology?

They are not described using terms like homozygous or heterozygous Signup and view all the answers