46 Questions
In X-linked inheritance, what is the chance of affected sons when a heterozygous carrier female parent mates with a normal male parent?
50%
Which type of mutation involves changes in chromosome structure or number?
Chromosomal mutations
What is the genetic implication related to the treatment of genetic disorders?
Gene therapy
Which of the following disorders is an example of an autosomal recessive disorder?
Sickle cell anemia
Why is there no father-to-son transmission in all sex-linked inheritance?
Fathers pass on their Y chromosome to sons.
What is the probability of parental consanguinity if the genetic trait is rare in the population?
The probability of parental consanguinity is increased
What is the key difference between the inheritance patterns of autosomal recessive disorders and X-linked disorders?
In autosomal recessive disorders, affected individuals must inherit the mutant allele from both parents, while in X-linked disorders, affected males only need to inherit the mutant allele from their mother
What is the key difference in the enzyme function between homozygotes and heterozygotes for autosomal recessive disorders?
Homozygotes have no normal enzyme, while heterozygotes have equal amounts of normal and defective enzymes
Which of the following is an example of an X-linked disorder?
Hemophilia
What is the key difference between point mutations and chromosomal mutations?
Point mutations involve changes in a single nucleotide, while chromosomal mutations involve changes in the overall structure or number of chromosomes
Which component of genetics is described as a double helix structure containing genetic information?
DNA
How many pairs of homologous autosomes does a typical normal human cell contain?
23
Which pair of chromosomes carries matching genetic information?
Homologous chromosomes
In a chromosome, DNA is composed of how many complementary chains of deoxynucleotides?
Two
Where in a chromosome is DNA bound to histones and other proteins?
Chromatin
Which part of the chromosome is inherited from the mother and father?
Homologous pair
What is the primary function of DNA according to the passage?
DNA transmits genetic information to offspring.
What is the relationship between the DNA sequence and the amino acid sequence of a protein?
The DNA sequence is translated into the corresponding RNA sequence, which is then translated into the protein sequence.
What is the key difference between germline mutations and somatic mutations?
Germline mutations can be passed to offspring, while somatic mutations cannot.
Which of the following is an example of a numerical chromosomal disorder?
Down syndrome
Which of the following is a characteristic feature of Down syndrome?
All of the above
What is the most common type of genetic disorder according to the passage?
Multifactorial disorders
What is the key difference between aneuploidy and polyploidy?
Aneuploidy involves the addition or loss of one or two chromosomes, while polyploidy involves the addition of complete haploid sets of chromosomes.
Which of the following is a characteristic of structural chromosomal anomalies?
They can be either genetically balanced or unbalanced.
What is the key difference between Mendelian disorders and multifactorial disorders?
Mendelian disorders are caused by a single gene, while multifactorial disorders involve multiple genes.
What is the approximate frequency of chromosomal disorders among live born infants?
1-5%
What is the primary characteristic of autosomal dominant disorders?
The disease allele needs to be present in only one copy to result in the phenotype.
Which of the following is NOT a characteristic of autosomal recessive disorders?
In the mating of two heterozygous carriers, the chance of an affected child is 100%.
What is the primary cause of autosomal dominant disorders?
Both loss of function and gain of function mutations can cause autosomal dominant disorders.
Which of the following is an example of an autosomal dominant disorder?
Huntington disease
What is the primary characteristic of multifactorial disorders?
They result from the combined actions of environmental factors and two or more mutant genes.
Which of the following is an example of a multifactorial disorder?
Diabetes mellitus
What is the primary characteristic of single gene disorders with non-classic inheritance?
They are caused by mutations in mitochondrial genes or involve genomic imprinting.
Which of the following is an example of a single gene disorder with non-classic inheritance?
Leber hereditary optic neuropathy
What is the primary characteristic of Mendelian disorders?
They are caused by a single mutant gene affecting protein function.
Which of the following is an example of a Mendelian disorder?
Marfan syndrome
Which type of inheritance pattern leads to the production of affected daughters by mating a heterozygous female with an affected male?
X-linked inheritance
What is the genetic implication related to social and ethical aspects of genetic disorders?
Privacy, discrimination, and genetic engineering
Which mutation type results in single nucleotide changes like substitutions, insertions, or deletions?
Point mutations
In the context of autosomal recessive disorders, what is the outcome for heterozygotes?
They exhibit normal enzyme function
Which trait is carried on the Y chromosome, resulting in male-pattern baldness?
Male-pattern baldness (androgenetic alopecia)
What is the key characteristic of X-linked inheritance in terms of father-to-son transmission?
No father-to-son transmission due to the X chromosome inheritance
Which type of genetic disorder occurs due to abnormalities in an individual's genome?
Genetic disorder
'Equal amounts of normal & defective enzymes' in heterozygotes for autosomal recessive disorders result in what cellular function?
Normal enzyme functions
'Loss of function mutations' in autosomal recessive disorders lead to what outcome?
'No normal enzyme' & disease in homozygotes
'Trait carried on the X chromosome' describes which type of inheritance pattern?
'X-linked inheritance'
This quiz covers the basics of genetics, including DNA, genes, and chromosomes, as well as inheritance patterns such as autosomal dominant, autosomal recessive, and X-linked. It also explores genetic disorders, mutations, and their implications.
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