Genetics: Genetics Ch 24 Connect Flashcards

The use of information about a patient's genotype in order to select a medication or therapy that is specifically suited to the patient is called

Approximately how many human diseases have a genetic basis?

True or false: A disease with a genetic origin in a mouse is unlikely to be an inherited disease in humans.

Which observations are consistent with a disease having a genetic basis?

True or false: Identical twins share a genetic disease more often than fraternal twins.

Personalized medicine can be used to select a ______.

Monozygotic twins ______.

When a defect in a single gene causes a human disease, the mutant gene often follows ______.

Dizygotic twins ______.

True or false: Comparing someone with a genetic disease to another person in the general population, the person with the disease is more likely to have a family member with the same disease.

Nontraumatic epilepsy shows a concordance of 70% for monozygotic twins and 6% for dizygotic twins. This demonstrates that nontraumatic epilepsy is a ______.

Select observations that are consistent with a disease having a genetic basis.

True or false: Dizygotic twins share a genetic disease more frequently than monozygotic twins.

What tool do scientists use to follow a human pattern of inheritance from generation to generation?

Twins that are genetically identical to each other are called ______ twins.

Twins that share about 50% of their genetic material are called ______ twins.

When a human disease is caused by a mutation in a single gene, the pattern of inheritance is called ___ Mendelian inheritance.

In one study, autism showed 60% concordance for monozygotic twins and 0% concordance for dizygotic twins. This demonstrates that autism is ______.

Select all that apply

Which of the following characteristics of inheritance can be observed in the accompanying pedigree of a family affected by Tay-Sachs disease?

When a human disease is caused by a mutation in a single gene, scientists follow the pattern of inheritance by analyzing charts called human

What is the inheritance pattern when a trait occurs with the same frequency in both sexes and an affected offspring can have two unaffected parents?

Select the human disorders that are inherited in an autosomal recessive fashion.

Simple Mendelian inheritance is a pattern observed when a human disorder is caused by ______.

Select all that apply

In the accompanying pedigree, a filled symbol indicates an individual with Huntington disease while a clear symbol shows an unaffected individual. Which of the following characteristics of inheritance can be observed for this affected family?

What is the inheritance pattern for a trait that occurs with equal frequency in both sexes and will be inherited, on average, by 50% of the offspring of an affected individual who had only one affected parent?

Consider the children of II-6 and II-7 in the accompanying pedigree for a family affected by Tay-Sachs disease. What is one genotype that could have been produced by these two parents but was not observed?

What is the inheritance pattern when the trait occurs with the same frequency in both sexes and two unaffected heterozygotes have, on average, 25% affected children?

A dominant genetic disorder can be caused by a ______ mutation, where the product of an altered gene gains a new or abnormal function.

The autosomal recessive human disorder albinism (type I) is caused by a mutation in the gene for ______.

Select all that apply

Select human disorders inherited in an autosomal dominant fashion.

In the accompanying pedigree, a filled symbol indicates an individual with Huntington disease while a clear symbol shows an unaffected individual. Considering the symbol for individual II-5, you conclude that her father, I-1 is ______ allele for Huntington disease.

What is the inheritance pattern for a trait that occurs with the same frequency in both sexes and two affected heterozygous individuals have, on average, 25% unaffected offspring?

A dominant genetic disorder can be caused by ______, a situation where one functional copy of an allele is not sufficient to produce a normal phenotype.

Select all that apply

Select human diseases that are inherited in an X-linked recessive fashion.

Marfan syndrome, which is inherited in an autosomal dominant manner, is caused by a mutation in the gene for ______.

Select all that apply

Consider the accompanying partial pedigree showing inheritance of hemophilia in the family of Queen Victoria and Prince Albert. If X ^h is the allele for hemophilia and X ^H is the allele for normal blood clotting, which genotypes are missing among the children of Alice of Hesse and her husband, in the middle of the figure?

What is the inheritance pattern for a trait that more commonly affects males than females and can often be observed in brothers or fathers of a woman who has affected sons?

What is the inheritance pattern for a trait that is more likely to occur in females when it is lethal to males?

Duchenne muscular dystrophy, which is inherited in an X-linked recessive manner, is caused by a mutation in the gene for ______.

Rett syndrome, which is inherited in an X-linked dominant manner, is caused by a mutation in the gene for ______.

Select all that apply

Which of the following characteristics of inheritance for hemophilia can be observed in the accompanying partial pedigree for the family of Queen Victoria and Prince Albert?

What is the inheritance pattern for a trait that more commonly affects males than females and which will occur in about 50% of the sons born to the unaffected daughter of an affected male?f

Which statement is true of X-linked dominant disorders such as Rett syndrome and Aicardi syndrome?

The disease hemophilia is caused by a deficiency in any one of three blood clotting factors. Two of these factors are encoded by genes on the X chromosome and the other clotting factor gene is located on an autosome. Since mutations in more than one gene can cause hemophilia, this represents ______.

Consider the accompanying figure showing four variable sites along a chromosome that can have any of three different versions, A, B or C, at each site. For this individual, the listing 1C 2C 3C 4A is a ______.

Select all that apply

Select human disorders that are inherited in an X-linked dominant manner.

Which best describes a haplotype?

Which factor is likely to contribute to a change in a haplotype between generations?

An association between a disease-causing allele and nearby molecular markers can be established because ______.

A situation where a disease may be caused by mutations in two or more different genes is called ______.

A single individual who first had a disease-causing allele is called a

If alleles and molecular markers are associated with each other at a frequency greater than expected by random chance, the situation is described as ______.

The linkage of alleles or molecular markers along a single chromosome is called a ______.

The accompanying pedigree shows the inheritance of Huntington disease with filled symbols and also indicates which combination of four possible forms (A, B C, D) of a molecular marker called G8 that the person has inherited. What is the one possible phenotype and marker combination that is missing among the children of the couple surrounded by the circle?

Haplotypes are relatively stable from one generation to the next because ______.

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You are trying to identify the mutant gene responsible for a human disease. You have performed haplotype association, which has identified a short chromosomal region associated with the disease. Place the next steps you should take to identify the gene in order, placing the first step at the top.

When a new mutation establishes a disease-causing allele in a family member, the allele's location can be traced through ______.

Fill in the blank question.

Once a disease-causing allele is identified, progress can often be made on developing ___ to treat the disease and genetic ___ to enable people to determine if they carry the disease-causing allele.

The first individual who carried a disease called allele is called a ______.

A worldwide effort to identify human genetic variation observed for SNPs and other variants is called the International ___ Project.

Linkage disequilibrium is a(n) ______

The purpose of the HapMap project is to ______.

The accompanying pedigree shows the inheritance of Huntington disease with filled symbols and also indicates which combination of four possible forms (A, B C, D) of a molecular marker called G8 that the person has inherited. Although there are some exceptions, the inheritance of Huntington disease is most closely associated with which form of the G8 marker in this pedigree?

An examination of the genomes of many different individuals to determine if a specific genetic variant is associated with a human disease is called a genome-wide ___ ___.

To determine which gene in a chromosomal region is responsible for a specific disease, which of the following steps would be used LAST?

Select all that apply

Identifying disease-causing alleles is useful for ______.

Multiple select question.

The International HapMap Project is an effort to identify differences in human DNA sequences by identifying ______.

In a genome-wide association study, the goal is to identify ______ which show a significantly different frequency between a control group and a group of individuals affected by a specific disease.

Researchers studying disease-causing genes can use information found in a catalog of common human genetic variants called the

The odds ratio is the odds of ______ a disease for individuals carrying a specific SNP versus the odds of ______ a disease for individuals not carrying the same SNP.

The goal of a ______ study is to find a relationship between one or more single-nucleotide polymorphisms (SNPs) and a disease or other human trait.

Which represents a way to visualize the results of a genome-wide association study?

For SNPs shown to have a cause-and-effect relationship with a specific disease, which type(s) of changes may be observed?

To study the distribution of disease-causing genes, genetic ______ refers to determining if an individual carries the faulty gene, while genetic ______ relates to assessing the presence of the gene throughout a population.

To conduct a genome-wide association study, the ______ of a large group of individuals who are afflicted with the same disease are compared to those of a large group of people without the disease.

Suppose a disease-causing allele shows autosomal recessive inheritance. How could a carrier of this disease-causing allele be identified?

To identify SNPs for which the frequency is significantly different between a control group and a group of individuals affected by a disease, a(n) ___ ___ is determined and its significance can be evaluated based on the calculation of a(n) ___ value.

The data shown in the figure represent the results of a ______ study for human chromosomes 1 through 12.

Which changes can be represented in an SNP identified to have an cause-and-effect relationship with a specific disease through genome-wide association studies?

Genetic testing is used to determine whether a(n) ______ has a disease-causing gene, while genetic screening is used to determine how frequently the gene is found in a(n) ______.

Select all that apply

Which methods can be used at the DNA level to test for specific mutations related to a genetic disease?

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Tay-Sachs disease is inherited with an autosomal recessive allele that leads to a defect in the enzyme hexosaminidase A. When cells are collected from patients, cells with different genotypes exhibit different amounts of enzymatic activity. Rank the amount of enzymatic activity that would be detected in a biochemical assay on cells from patients of these genotypes, with the genotype producing the LEAST amount of enzymatic activity on top.

InstructionsChoice 1 of 3. Homozygous recessive toggle button

Homozygous recessive

Choice 2 of 3. Homozygous dominant toggle button

Homozygous dominant

Choice 3 of 3. Heterozygous toggle button

Heterozygous

A karyotype can be used to ______.

Which of these is a common example of widespread genetic screening of newborns to identify certain disorders?

Select all that apply

Which of the following are areas of social and ethical concern regarding genetic testing and screening?

A method for obtaining fetal cells in a sample of the fluid surrounding the fetus is called ______.

Which method can be used at the DNA level to detect the presence of a specific mutation in a disease-causing allele?

Chromosomal abnormalities related to genetic diseases can be detected by ______.

Match the life stage on the left to the type of screening on the right that would be used to detect a genetic disease.

A small portion of the fetal part of the placenta is removed to prepare a karyotype in the process called ______.

One concern associated with genetic testing and screening is the potential for misuse of private information including ___ by employers or insurance providers.

Embryos produced by in vitro fertilization can undergo genetic testing by ______.

Amniocentesis is a procedure for ______.

In vitro fertilization is a procedure in which ______.

What is the source of cells used in preimplantation genetic diagnosis?

Select all that apply

Which of the following are infectious diseases caused by prions?

Chorionic villus sampling is a procedure for ______.

Preimplantation genetic diagnosis is a method testing for genetic diseases in ______.

A procedure in which sperm and egg are combined outside a mother's body is called ______.

A disease-causing agent made only of protein is called a ______.

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Place the steps of preimplantation genetic diagnosis in the correct order with the first step at the top.

Select all that apply

Which of the following are human inherited diseases that are caused by prions?

Multiple select question.

Which type of catalytic activity occurs in prion-caused diseases?

Gene ___ is the introduction of cloned genes into somatic cells to treat disease.

A prion is a disease-causing agent made ______.

Select all that apply

Gene therapies were approved by the FDA in 2017 for which of the following diseases?

Multiple select question.

Select all that apply

How can abnormal forms of the prion protein arise within an individual?

Select the types of diseases that are being investigated as potential targets for gene therapy.

The abnormal form of a prion protein causes a neurodegenerative disease by ______.

What types of human diseases are the most straightforward targets for gene therapy?

Click and drag.

Place the steps by which a cloned gene is transfered into human cells via liposomes in order, with the first step at the top.

Two gene therapies that target ___ system cells were approved in 2017, to treat B-cell acute lymphoblastic leukemia and non-Hodgkin lymphoma.

An advantage of using liposomes as vectors to transfer cloned genes is that liposomes ______.

What can cause prion disease in humans when the products of an affected animal are consumed?

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Place the steps by which a cloned gene is transferred into human cells using a retroviral technique in order, with the first step at the top.

Sickle cell disease, hemophilia, and SCID are all diseases for which gene therapy may be useful. What type of disease are these?

Scientists have been working on reducing the inflammatory response evoked by ___ vectors, to improve the safety of gene therapy.

One form of severe combined immune deficiency disease (SCID) is caused by inheriting two defective copies of the ______ gene that encodes an enzyme involved in purine metabolism crucial to the maintenance of healthy immune system cells.

The most common nonviral technique to transfer a cloned gene into human cells involves lipid vesicles called

A major disadvantage of using liposomes as vectors to transfer cloned genes is ______.

A patient with ADA deficiency can be treated with a bone marrow ___, injections of purified ___ enzyme coupled with polyethylene glycol, or gene ___.

In which way are viruses used for gene transfer different from their wild-type counterparts?

The major disadvantage to using viral vectors to transfer cloned genes is ______.

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Place the steps used to treat a patient with adenosine deaminase deficiency via gene therapy in order, with the first step at the top.

InstructionsChoice 1 of 4. The retroviral genetic material was inserted into the chromosomal DNA of the lymphocytes. toggle button

The retroviral genetic material was inserted into the chromosomal DNA of the lymphocytes.

Choice 2 of 4. The lymphocytes were transfected with a retrovirus that had been genetically engineered to contain the normal ADA gene. toggle button

The lymphocytes were transfected with a retrovirus that had been genetically engineered to contain the normal ADA gene.

Choice 3 of 4. The lymphocytes were reintroduced back into the patient. toggle button

The lymphocytes were reintroduced back into the patient.

Choice 4 of 4. Lymphocytes were removed from the patient and cultured in the lab. toggle button

Lymphocytes were removed from the patient and cultured in the lab.

If both copies of the ___ gene are defective, deoxyadenosine accumulates within the individual, which can lead to a severely compromised ___ system.

When an experiment or treatment involves genetic manipulation outside of the body, followed by reintroduction into the body, it is called an ______ approach.

Several patients receiving gene therapy for SCID-X1 developed ___, which was caused by integration of the retroviral vector next to a particular gene in the patients' genomes.

Select treatments for patients with adenosine deaminase (ADA) deficiency.

Molecular profiling is ______.

The gene delivery system used to treat adenosine deaminase deficiency in the first human gene therapy was ______.

A technique where genetic manipulations occur outside of the body, and then the products are reintroduced into the body is called a(n) ___ ___ approach.

The drug tamoxifen has been used to prevent overexpression of estrogen receptors for a specific and effective breast cancer treatment. Development of drugs that target proteins unique to certain types of cancer is an outcome of

The gene therapy trial to treat SCID-X1 ______.

Which method can identify genes that are active in cancer cells but inactive in normal cells?

DNA microarray analysis led to the identification of two types of tumors from patients with diffuse large B-cell lymphoma, those originating from germinal center B-like cells and those originating from activated B-like cells. From the accompanying diagram, which group of patients had a higher survival rate?

The process of identifying the genes that play a role in the development of a specific type of cancer is called ______.

Molecular profiling is useful because ______.

The study of genetic variations that cause differing responses to drugs is called ______.

DNA microarrays can be used to ______.

Select all that apply

Which factors determine the proper dose of a drug to prescribe for a patient?

Which aspects of drug interaction within the body are affected by genetic variation in humans?

The anticoagulant drug warfarin is metabolized by a cytochrome P450 enzyme in the liver. Proper dosages must account for the amount that will be eliminated by the liver in order to provide a sufficient amount of circulating drug to prevent blood clots from forming. Four levels of warfarin metabolism have been identified in the human population, and from highest to lowest these are: ultrarapid, extensive, intermediate, and poor. Which metabolism type would require the lowest dosage of warfarin to prevent blood clotting?

Pharmacogenetics is the ______.

Genetic variation in the ability to metabolize the anticoagulant drug warfarin is shown by polymorphisms in the CYP2C9 gene, which encodes a liver enzyme called ___ P450.

Which of the following factors related to proper dosing of drugs would tend to reduce the amount of drug available to provide effective therapy for the patient?

In determining the proper dose of a drug to give a patient, which factors need to be considered? Whether the patient has a gene that ______.

The anticoagulant drug warfarin is metabolized by a cytochrome P450 enzyme in the liver. Proper dosages must account for the amount that will be eliminated by the liver in order to provide a sufficient amount of circulating drug to prevent blood clots from forming. Four levels of warfarin metabolism have been identified in the human population, and from highest to lowest these are: ultrarapid, extensive, intermediate, and poor. Which metabolism type would require the highest dosage of warfarin to prevent blood clotting?

Patients taking the anticoagulant drug warfarin vary in the ability to metabolize the drug due to polymorphisms in the CYP2C9 gene that encodes a ______ expressed in the liver.