46 Questions
What is the term for an observable trait or physical property that is determined by the genotype?
Phenotype
Which type of chromosomes are generally present in human cells?
Diploid
What is the term for a condition where alleles on homologous chromosomes are different?
Heterozygous
Which inheritance pattern is characterized by diseases that are rare and usually seen in children or grandchildren?
Autosomal Dominant
What type of relatives provide the strongest overlapping genetic information when considering family history for clinical purposes?
First degree relatives
If both parents are heterozygous for an autosomal recessive disorder, what is the approximate chance that their offspring will be affected?
25%
Which statement best describes the inheritance pattern of an autosomal dominant disorder?
The disorder is expressed equally in both genetic sexes and does not typically skip generations.
Which statement best describes the inheritance pattern of an X-linked recessive disorder?
More common in individuals with XY chromosomes, and there cannot be transmission from XY-parent to XY-offspring.
What is the key difference between autosomal dominant and autosomal recessive inheritance patterns?
Autosomal dominant requires one affected allele, while autosomal recessive requires two affected alleles.
What is a key feature of Y-linked disorders?
They are rare because the Y chromosome contains relatively few genes.
In autosomal recessive inheritance, what is the genotype of an unaffected carrier?
Heterozygous
What is the pattern of inheritance for a trait controlled by a gene on the X chromosome in males?
X-linked recessive
In a family with an autosomal dominant disorder, if both parents are unaffected, what is the probability that their child will be affected?
0%
What is the genotype of an individual with a recessive trait in a species that has a diploid genome?
Homozygous recessive
In a pedigree analysis of an X-linked recessive disorder, what does it mean if a female is affected but her father is unaffected?
The disorder arose from a new mutation in the mother
What is the term used to describe the proportion of genotypes that actually show expected phenotypes?
Penetrance
In autosomal dominant inheritance, how many copies of the affected allele are needed to cause phenotypic expression?
One
What is the term for the theory that an organism with two different alleles of a particular gene (heterozygous) has greater fitness than one that is homozygous?
Heterozygote advantage
Which type of inheritance can appear to skip a generation because XX individuals may be carriers?
Autosomal Recessive
In X-linked recessive inheritance, what can cause the appearance of skipping a generation?
XX-parent to both XX and XY-offspring transmission
Which genetic syndrome involves mutations in genes that cause colon, ovarian, and endometrial cancers?
Lynch syndrome
In autosomal dominant inheritance, if an affected individual has a child with an unaffected individual, what is the probability that their child will inherit the disorder?
50%
Which inheritance pattern is characterized by skipping generations and affecting males more than females?
X-linked recessive inheritance
A patient who presents with a condition at a much younger age than typically expected might raise suspicion for what in terms of genetics?
Autosomal dominant inheritance
What is the primary mode of inheritance for hereditary hemochromatosis?
Autosomal recessive inheritance
Which of the following is an example of a chromosomal aberration caused by a breakage and re-attachment of chromosome fragments?
Translocation
Which of the following conditions is caused by a numerical chromosomal abnormality?
Trisomy 18
What is the term used to describe a condition where somatic cells contain only one copy of a chromosome?
Monosomy
Which of the following is an example of a point mutation?
Missense mutation
What is the term used to describe a condition where somatic cells have more than two copies of each chromosome?
Polyploidy
Which type of genetic mutation occurs when there is a single base change in a DNA sequence during replication?
Point mutation
In genetic inheritance, what is the term for a mutation that does not alter the amino acid sequence of a protein?
Silent mutation
Which epigenetic modification increases gene expression by altering histones?
Acetylation
What type of genetic mutation causes a gene to become transcriptionally inactive or silent?
Histone modification
Which type of genetic mutation involves the attachment of a methyl group to DNA?
DNA methylation
In genetic inheritance, what type of mutation may have significant implications if it occurs in promoter or coding regions?
Which type of genetic mutation involves the attachment of a methyl group to DNA, causing a gene to become transcriptionally inactive or silent?
DNA methylation
In autosomal dominant inheritance, if both parents are unaffected, what is the probability that their child will be affected?
0%
Which type of inheritance can appear to skip a generation because XX individuals may be carriers?
X-linked recessive
If both parents are heterozygous for an autosomal recessive disorder, what is the approximate chance that their offspring will be affected?
25%
Which epigenetic modification increases gene expression by altering histones?
Histone acetylation
In a family with an autosomal dominant disorder, if an affected individual has a child with an unaffected individual, what is the probability that their child will inherit the disorder?
50%
In X-linked recessive inheritance, what can cause the appearance of skipping a generation?
Carrier females
Which type of genetic mutation occurs when a single base is inserted, deleted, or changed within a DNA (or RNA) sequence?
Point mutation
In autosomal recessive inheritance, what is the genotype of an unaffected carrier?
Heterozygous
Which inheritance pattern is characterized by diseases that are rare and usually seen in children or grandchildren?
Anticipation
Learn about the fundamental concepts of genetic inheritance, including phenotype, genotype, and the influence of the environment on observable traits. Explore how DNA structure affects genetic expression and the central dogma of genetics involving DNA, RNA, and protein synthesis.
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