20 Questions
What proportion of known Mendelian disorders are inherited as autosomal dominant traits?
More than half
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)?
50%
What is the genotype of offspring of two affected individuals (D/d) 25% of the time?
D/D
What can limit the observation of individuals with a homozygous genotype for a dominant phenotype?
Early lethality of the phenotype
How can X-linked disorders be classified?
As either X-linked dominant or recessive
What is the characteristic of X-linked recessive conditions?
They are expressed only in hemizygotes
What is the main feature of mitochondrial inherited diseases?
They do not show patterns typical of Mendelian inheritance
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
What is the process by which the mitochondrial genome is inherited from mother to offspring?
Maternal inheritance
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
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.
What is the risk of transmitting autosomal recessive disorders when both parents are carriers?
25%
What is the genotype of an individual who is a carrier of an autosomal recessive disorder?
Heterozygous
What is the phenotype of an individual who is a carrier of an autosomal recessive disorder?
Unaffected by the disease
What is the result when both parents have the same autosomal recessive disorder?
Offspring will always be affected
What is the term for the expression of an individual's genotype as observable traits?
Phenotype
What is the term for having identical alleles at a locus?
Homozygosity
What type of disorders are determined by alleles at a single locus and follow Mendelian inheritance patterns?
Single-Gene Disorders
What is the term for an individual who inherits two different mutant alleles of a gene, one from each parent?
Compound Heterozygote
What is unique about mitochondrial DNA genotypes in terms of terminology?
They are not described using terms like homozygous or heterozygous
Learn about autosomal patterns of Mendelian inheritance, including autosomal dominant and recessive traits. Understand how the risk and severity of inherited diseases depend on parental factors and trait dominance.
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