Podcast
Questions and Answers
Biologists can analyze human chromosomes by looking at a __________.
Biologists can analyze human chromosomes by looking at a __________.
karyotype
A karyotype is a picture of the chromosomes from a cell arranged in __________ pairs.
A karyotype is a picture of the chromosomes from a cell arranged in __________ pairs.
homologous
Humans have ____ chromosomes.
Humans have ____ chromosomes.
46
Two of these chromosomes, X and Y, are the ______ chromosomes.
Two of these chromosomes, X and Y, are the ______ chromosomes.
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Females have how many X chromosomes?
Females have how many X chromosomes?
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Males have how many Y chromosomes?
Males have how many Y chromosomes?
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The other 44 chromosomes are called ______.
The other 44 chromosomes are called ______.
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Human genes are inherited according to the same principles described by whom?
Human genes are inherited according to the same principles described by whom?
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To study the inheritance of human traits, biologists use a __________.
To study the inheritance of human traits, biologists use a __________.
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A pedigree shows the relationships within a ______.
A pedigree shows the relationships within a ______.
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The inheritance of a certain ______ in a family can be traced using a pedigree.
The inheritance of a certain ______ in a family can be traced using a pedigree.
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From this, biologists can infer the ______ of family members.
From this, biologists can infer the ______ of family members.
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It is difficult to associate an observed human trait with a ______.
It is difficult to associate an observed human trait with a ______.
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Many human traits are _______, meaning that they are controlled by many genes.
Many human traits are _______, meaning that they are controlled by many genes.
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The ______ also influences many traits.
The ______ also influences many traits.
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Some of the first human genes to be identified were those that control __________.
Some of the first human genes to be identified were those that control __________.
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Red blood cells can carry two different antigens, called ____ and ____.
Red blood cells can carry two different antigens, called ____ and ____.
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_________ are molecules that can be recognized by the immune system.
_________ are molecules that can be recognized by the immune system.
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The presence or absence of the A and B antigens produces 4 possible blood types: ____, _____, ______, and ____.
The presence or absence of the A and B antigens produces 4 possible blood types: ____, _____, ______, and ____.
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The ABO blood types are determined by a single gene with ______.
The ABO blood types are determined by a single gene with ______.
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In addition to the ABO antigens, there is another antigen on red blood cells called the ____________.
In addition to the ABO antigens, there is another antigen on red blood cells called the ____________.
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People without it are __________.
People without it are __________.
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People who have the Rh antigen are _________.
People who have the Rh antigen are _________.
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A single ______ with two __________ determines the Rh blood group.
A single ______ with two __________ determines the Rh blood group.
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There are several human genetic disorders, including _______________, _____________, and _____________________.
There are several human genetic disorders, including _______________, _____________, and _____________________.
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PKU is caused by a __________________.
PKU is caused by a __________________.
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It is expressed only in individuals who have __________ a recessive allele from each parent.
It is expressed only in individuals who have __________ a recessive allele from each parent.
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Huntington's disease is caused by a ___________.
Huntington's disease is caused by a ___________.
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It is _________ in any person who has that allele.
It is _________ in any person who has that allele.
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Sickle cell disease is caused by a ____________.
Sickle cell disease is caused by a ____________.
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Scientists are beginning to understand which changes in the ______________ cause certain genetic disorders.
Scientists are beginning to understand which changes in the ______________ cause certain genetic disorders.
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Cystic fibrosis is caused by what?
Cystic fibrosis is caused by what?
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This deletion ___________ the protein, which causes the symptoms of this disorder.
This deletion ___________ the protein, which causes the symptoms of this disorder.
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Only one ___________ is changed in the allele that causes sickle cell disease.
Only one ___________ is changed in the allele that causes sickle cell disease.
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This base change produces a blood protein that is less ______ than normal.
This base change produces a blood protein that is less ______ than normal.
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The two smallest human chromosomes, ____________ and ______ were the first chromosomes to have their DNA sequences identified.
The two smallest human chromosomes, ____________ and ______ were the first chromosomes to have their DNA sequences identified.
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Both have many genes important for _________.
Both have many genes important for _________.
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Both have regions of DNA that do not ______ for proteins.
Both have regions of DNA that do not ______ for proteins.
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Genes located on the X and Y chromosomes, the ____________, are said to be ___________.
Genes located on the X and Y chromosomes, the ____________, are said to be ___________.
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They are inherited in a different pattern than genes located on __________.
They are inherited in a different pattern than genes located on __________.
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For example, all alleles linked to the X chromosome, including those responsible for __________, ____________, and _____________ are expressed in males even if they are recessive alleles.
For example, all alleles linked to the X chromosome, including those responsible for __________, ____________, and _____________ are expressed in males even if they are recessive alleles.
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However, in order for these recessive alleles to be expressed in _________, there must be two copies of them.
However, in order for these recessive alleles to be expressed in _________, there must be two copies of them.
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Females have two __________.
Females have two __________.
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________ have only one X chromosome.
________ have only one X chromosome.
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To account for this difference, one X chromosome in females is randomly __________.
To account for this difference, one X chromosome in females is randomly __________.
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The turned-off chromosome forms a dense region in the nucleus known as __________.
The turned-off chromosome forms a dense region in the nucleus known as __________.
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Barr bodies are not found in whom?
Barr bodies are not found in whom?
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The most common error during meiosis is __________.
The most common error during meiosis is __________.
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_____________ is the failure of the chromosomes to separate properly during meiosis.
_____________ is the failure of the chromosomes to separate properly during meiosis.
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It causes abnormal numbers of chromosomes to find their way into __________.
It causes abnormal numbers of chromosomes to find their way into __________.
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This may result in a disorder of __________.
This may result in a disorder of __________.
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An example of autosomal nondisjunction is what?
An example of autosomal nondisjunction is what?
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Nondisjunction can also occur in ____________.
Nondisjunction can also occur in ____________.
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In ___________, there are extra X chromosomes.
In ___________, there are extra X chromosomes.
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In ____________, females have only one X chromosome.
In ____________, females have only one X chromosome.
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Biologists can use techniques in molecular biology to _______, ___________, and even change the DNA code of human genes.
Biologists can use techniques in molecular biology to _______, ___________, and even change the DNA code of human genes.
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Genetic tests are available to test parents for the presence of _____________ for genetic disorders.
Genetic tests are available to test parents for the presence of _____________ for genetic disorders.
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In a process called __________, individuals can be identified by analyzing sections of DNA that have little or known function.
In a process called __________, individuals can be identified by analyzing sections of DNA that have little or known function.
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These sections of DNA ___________ from one person to the next.
These sections of DNA ___________ from one person to the next.
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In 1990, scientists around the world began the what?
In 1990, scientists around the world began the what?
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The goal was to identify the __________ for entire DNA in a human cell.
The goal was to identify the __________ for entire DNA in a human cell.
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In 2000, the human genome was __________.
In 2000, the human genome was __________.
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Now the project goal is to __________ these sequences.
Now the project goal is to __________ these sequences.
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One way scientists are analyzing the DNA is by looking for ______.
One way scientists are analyzing the DNA is by looking for ______.
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To do this, they look for ______________.
To do this, they look for ______________.
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These are sequences that _______ RNA polymerase.
These are sequences that _______ RNA polymerase.
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Information about the human genome can be used to cure genetic disorders by __________.
Information about the human genome can be used to cure genetic disorders by __________.
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In one method of gene therapy, a ________ is used to deliver the normal gene into cells to correct the genetic defects.
In one method of gene therapy, a ________ is used to deliver the normal gene into cells to correct the genetic defects.
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The virus is changed so that it cannot cause ______.
The virus is changed so that it cannot cause ______.
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The normal gene is attached to the ______ of the virus.
The normal gene is attached to the ______ of the virus.
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The inserted gene can make ________ that correct the genetic defect.
The inserted gene can make ________ that correct the genetic defect.
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There are ______ and ______ with gene therapy.
There are ______ and ______ with gene therapy.
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Having the power to manipulate human DNA doesn't necessarily make it ______.
Having the power to manipulate human DNA doesn't necessarily make it ______.
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People in a society are responsible for making sure that the tools made available by science are used ______.
People in a society are responsible for making sure that the tools made available by science are used ______.
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Study Notes
Human Genome Overview
- Karyotype: A visual representation of chromosomes arranged in homologous pairs, allows for analysis of human chromosomes.
- Humans possess 46 chromosomes: two sex chromosomes (X and Y) and 44 autosomes.
- Females have a karyotype of XX, while males have XY.
Inheritance and Genetic Traits
- Mendelian principles govern the inheritance of human genes.
- Pedigree charts track trait inheritance within families, illustrating familial relationships and specific traits.
- Genotype refers to the genetic makeup inferred from pedigree analysis; specific gene associations with traits can be complex.
Human Traits and Genetic Control
- Many traits are polygenic, meaning they are influenced by multiple genes.
- Environmental factors also affect trait expression.
- Blood types (A, B, AB, O) were among the first identified human genes, determined by the presence of A and B antigens.
Blood Group Classification
- The ABO blood group system is governed by three alleles: A, B, and O.
- Rh factor: Another antigen on red blood cells, classified as Rh positive (having the antigen) or Rh negative (lacking the antigen).
- Genetic disorders connected to specific alleles include Phenylketonuria (PKU), Huntington's disease, and sickle cell disease.
Genetic Disorders
- PKU arises from a recessive allele; it affects individuals inheriting two copies of this allele.
- Huntington’s disease is caused by a dominant allele and expresses in individuals possessing the allele.
- Sickle cell disease results from a codominant allele, where both traits influence the phenotype.
Chromosomal Abnormalities
- Nondisjunction is a common error during meiosis, leading to abnormal chromosome numbers in gametes.
- Examples include Down syndrome (extra chromosome 21) and Klinefelter's syndrome (additional X chromosome).
- Turner's syndrome occurs when a female has only one X chromosome.
Genetic Testing and Modification
- Genetic tests can identify recessive alleles associated with disorders.
- DNA fingerprinting analyzes non-coding DNA sections to identify individuals due to variations.
- The Human Genome Project aimed to map and sequence all human DNA, completed in 2000.
Gene Therapy
- Gene therapy uses information from the human genome to address genetic disorders.
- A modified virus delivers normal genes into cells to correct defects without causing disease.
- Ethical implications arise regarding genetic manipulation, emphasizing the need for responsible use of scientific advancements.
Studying That Suits You
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Description
Explore the key terms and concepts related to the human genome in this flashcard quiz. From karyotypes to chromosomes, test your understanding of the fundamental aspects of genetics. Perfect for students looking to enhance their knowledge in biology.
