77 Questions
What is the chance that offspring of two carriers of the abnormal gene will inherit two normal genes?
25%
Which genetic disorder involves a deficiency in a liver enzyme that leads to the inability to process the essential amino acid phenylalanine?
Phenylketonuria
In X-linked recessive inheritance, what is the probability that a woman who is a carrier will have an affected son?
25%
What is the chance that any two parents will both be carriers of the mutant gene if the couple has consanguinity?
Increased chance
Which genetic disorder involves generalized dysfunction of the exocrine glands?
Cystic fibrosis
In X-linked dominant inheritance, who will inherit the condition from an affected male?
All daughters and no sons
What is the chance of inheriting two abnormal genes in autosomal recessive inheritance?
25%
Which type of genetic disorders are attributed to multifactorial inheritance?
Spina bifida
What is not true about X-linked inherited disorders?
Females can be either heterozygous or homozygous for any allele.
What is the specific genetic makeup of an individual usually in the form of DNA?
Genotype
How many chromosomes do human beings typically have?
46 pairs
What do genes control?
Protein production and rate
What is a gene that controls eye color an example of?
Allele
How many chromosomes do offspring receive from each parent?
23
What does a mutation in a gene lead to?
Abnormal protein production
What determines the observed, outward characteristics of an individual?
Phenotype
What do patterns of inheritance demonstrate?
How genetic abnormalities can be passed on to offspring
What are Mendel’s laws of inheritance named after?
An Austrian naturalist
What do monogenic disorders result from?
Defective single gene
What is the role of the nucleus within the cell?
To store genetic information in the form of chromosomes
What is the function of genes within a chromosome?
To determine specific characteristics of an organism
What is the structure of DNA?
Double helix with alternating sugar and phosphate groups
What are the building blocks of the side pieces of the DNA double helix?
Phosphate and deoxyribose sugar
What is the role of the nitrogenous bases in DNA?
To form the cross connections in the DNA double helix
Where is genetic information stored within the cell?
Nucleus
What does DNA encode the instructions for?
Synthesizing specific proteins needed to maintain life
What are the working subunits of DNA known as?
Genes
What is found within a chromosome?
Genes and chromosomes
What are individual units of heredity of all traits?
Genes
What is the term for when chromosomal abnormalities do not show up in every cell?
Mosaicism
Which type of chromosomal disorder occurs when there is a breakage and loss of a portion of one or more chromosomes?
Deletion
What is the term for the failure of separation of the chromosome pair during cell division?
Nondisjunction
Which syndrome involves a missing or extra sex chromosome and may cause infertility and growth abnormalities?
Turner syndrome
In which type of chromosomal abnormality does a portion of the chromosome break off at two points and is turned upside down and reattached?
Inversion
Which type of chromosomal disorder results in having too much or too little genetic material?
Trisomy
What is the term for the abnormal rearrangement that occurs when a portion of one chromosome is transferred to another chromosome?
Translocation
Which type of chromosomal abnormality involves an entire single chromosome being added?
Trisomy
What causes most chromosomal abnormalities of number to occur?
Nondisjunction
What is the term used for a pictorial analysis of chromosomes, often used in prenatal testing to diagnose genetic diseases?
Karyotype
Which term refers to the specific genetic makeup of an individual, usually in the form of DNA?
Genotype
What refers to one of two or more alternative versions of a gene at a given position on a chromosome?
Allele
How many chromosomes do human beings typically have?
46
What is the term for the observed, outward characteristics of an individual, determined by genotype and environmental variation?
Phenotype
In autosomal dominant inheritance, what happens if a single gene in the heterozygous state is capable of producing the phenotype?
The mutant gene overshadows the normal gene
What do genes control in an individual?
Outward characteristics
What causes a genetic disorder or familial disorder?
Both a and c
$Ww$ stands for which type of characteristic in terms of allele combination?
Heterozygous
$ww$ stands for which type of characteristic in terms of allele combination?
Homozygous recessive
What is the genetic material found in humans that can replicate itself?
DNA
What are the individual units of heredity of all traits and are organized into long segments of DNA?
Genes
What do genes encode the instructions for synthesizing?
Proteins
What are the side pieces of the DNA double helix made up of?
Deoxyribose and phosphate
What are the cross connections or rungs of the DNA ladder made up of?
Nitrogenous bases
What is the sequence of the base pairs as they form each rung of the DNA ladder referred to as?
Genetic code
What is tightly coiled and packaged in units called chromosomes, housed in the cell’s nucleus?
DNA strands
What does DNA store?
Genetic information
In autosomal recessive inheritance, what is the chance that offspring of two carriers of the abnormal gene will inherit two normal genes?
25%
In X-linked recessive inheritance, what is the probability that a woman who is a carrier will have an affected son?
25%
1.1
Sugar, deoxyribose
What is the role of the nitrogenous bases in DNA?
Attach to the sides and make up the rungs of the ladder
Which type of genetic disorders are attributed to multifactorial inheritance?
Congenital malformations
What are the common types of genetic disorders that follow X-linked recessive inheritance patterns?
Hemophilia and color blindness
What is the chance that any two parents will both be carriers of the mutant gene if the couple has consanguinity?
100%
What is the role of genes within a chromosome?
Determine the observed characteristics of an individual
What are the common types of genetic disorders that follow autosomal recessive inheritance patterns?
Cystic fibrosis and phenylketonuria
What is the term for a condition in which males have only one X chromosome, therefore all the genes on their X chromosome will be expressed?
X-linked dominant inheritance
In X-linked dominant inheritance, what is the chance that both male and female offspring of an affected woman will inherit the condition?
50%
Which term refers to when the chromosomal abnormalities do not show up in every cell; only some cells or tissues carry the abnormality?
Mosaicism
What type of genetic disorder involves a deficiency in a liver enzyme that leads to the inability to process the essential amino acid phenylalanine?
Phenylketonuria
What occurs when a portion of one chromosome is transferred to another chromosome and an abnormal rearrangement is present?
Translocation
Which type of chromosomal disorder involves an entire single chromosome being added?
Trisomy
What is seen when a portion of a chromosome has broken off in two places and formed a circle or ring?
Ring chromosome
What is the most clinically significant structural abnormality involving the rearrangement of genetic material with neither an overall gain nor loss?
Balanced abnormalities
Which of the following involves having too much or too little genetic material due to breakage and loss of a portion of one or more chromosomes?
Deletion
What are gender-specific chromosomal abnormalities that may cause infertility, growth abnormalities, and possibly behavioral and learning problems?
Turner syndrome and Klinefelter syndrome
'Ring chromosomes' are seen when a portion of a chromosome has broken off in two places and formed what shape?
"O" shape or ring
What is the term for the failure of separation of the chromosome pair during cell division, meiosis, or mitosis?
Nondisjunction
Test your knowledge of autosomal recessive inheritance disorders and the likelihood of offspring inheriting normal or abnormal genes. Explore the concepts of mutant or abnormal genes being passed down from parents to their offspring.
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