Genetics and Genetic Diseases

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Questions and Answers

What is the approximate lifetime risk of developing breast cancer for women who inherit a BRCA1 mutation?

20 to 30 percent

50 to 80 percent (correct)

80 to 90 percent

30 to 50 percent

Which cancer is most commonly diagnosed in men?

Prostate cancer (correct)

Colorectal cancer

Lung cancer

Breast cancer

What role do first-degree relatives play in cancer risk according to the data?

They double or triple the risk of developing certain cancers. (correct)

They only affect the risk of diabetes.

They decrease the risk of developing cancers.

They are irrelevant to cancer risk.

What percentage of all cancer cases in the United States does tobacco use account for?

One third Signup and view all the answers

What factors significantly contribute to Type 1 diabetes beyond genetic predisposition?

Specific viral infections Signup and view all the answers

How is Type 2 diabetes primarily caused?

Insulin resistance Signup and view all the answers

What is the risk percentage of developing Type 1 diabetes if one of the identical twins has the disorder?

30 to 50 percent Signup and view all the answers

What percentage of cases does Type 2 diabetes account for among all diabetes cases?

90 percent Signup and view all the answers

What percentage of FDA-approved drugs have recommendations for genetic testing to guide administration dosing?

15% Signup and view all the answers

Which enzyme is encoded by the gene that influences the metabolism of many prescribed drugs?

Cytochrome B 450 Signup and view all the answers

What is the term for the number of new cases of a disease reported during a specific period?

Incidence rate Signup and view all the answers

Why is the prevalence rate typically higher than the incidence rate?

Because it includes old and new cases Signup and view all the answers

Which disease is mentioned as being more common in Europeans compared to other populations?

Cystic fibrosis Signup and view all the answers

What can genetic testing help to reduce in the administration of therapeutic drug prescriptions?

Trial and error in drug dosing Signup and view all the answers

Which population has a one in 600 occurrence rate for sickle cell disease?

American blacks Signup and view all the answers

What is a significant factor in the comparison of prevalence and incidence rates over time?

Length of the survival period Signup and view all the answers

What is the concordance rate for monozygotic twins concerning schizophrenia?

40 percent Signup and view all the answers

How does the risk of schizophrenia change for offspring of a schizophrenic parent compared to the general population?

It increases to about 10 percent Signup and view all the answers

What predominantly encoded components are associated with the risk of schizophrenia according to genetic studies?

Dopaminergic pathways Signup and view all the answers

Which disorder is characterized by extreme mood swings and emotional instability?

Bipolar disorder Signup and view all the answers

What percentage of the general population is estimated to be affected by bipolar disorder?

0.5 percent Signup and view all the answers

What is a significant challenge for genetic studies in complex disorders?

Heterogeneous influences from both genetics and environment Signup and view all the answers

What lifestyle modifications can significantly reduce the risk of developing certain diseases?

Diet, exercise, and stress reduction Signup and view all the answers

What role do identified genetic mutations play in diseases such as breast cancer?

They can lead to enhanced treatment options and prevention strategies Signup and view all the answers

What is a characteristic of multifactorial diseases compared to single gene diseases?

They have higher recurrence risk when multiple family members are affected. Signup and view all the answers

How do the recurrence risks for multifactorial diseases change in more remote relatives compared to single gene diseases?

Recurrence risks for multifactorial diseases decrease more rapidly for remote relatives. Signup and view all the answers

What is the difference between monozygotic (MZ) and dizygotic (DZ) twins regarding their genetic identity?

MZ twins share identical genetics, while DZ twins are genetically distinct. Signup and view all the answers

What distinguishes the occurrence of pyloric stenosis between males and females?

Males have a higher threshold for liability for the disorder. Signup and view all the answers

What factor is considered when evaluating the risk of recurrence for a multifactorial disease?

The severity of the disease expression in the affected family member. Signup and view all the answers

What is true regarding the genetic differences in dizygotic twins?

Each twin in a dizygotic pair can have different fathers. Signup and view all the answers

What defines a polygenic disease in contrast to multifactorial diseases?

They can exhibit variable expression due to both genetic and environmental influences. Signup and view all the answers

Why is risk estimation more complex for multifactorial diseases?

They involve interactions of various genes and environmental factors. Signup and view all the answers

What is the most common combination for transmitting a genetic disease?

Female carrier and normal male Signup and view all the answers

What initiates the process of gonadal differentiation during gestation?

The presence of one Y chromosome Signup and view all the answers

Which trait is primarily observed in only one sex due to anatomical differences?

Breast cancer Signup and view all the answers

Which gene region on the Y chromosome plays a critical role in sex determination?

S.R.Y region Signup and view all the answers

What is germline DNA primarily derived from?

Reproductive cells Signup and view all the answers

How many genetic conditions have currently had their causes determined?

About 4700 Signup and view all the answers

What is a key characteristic of precision or personalized medicine?

Inclusion of genetic and environmental factors Signup and view all the answers

What advancement has made searching for genetic diseases more common?

Decline in whole genome sequencing costs Signup and view all the answers

What is the predicted effect of imprinting genes from the mother on offspring size?

Limit offspring size Signup and view all the answers

Which imprinting disease is associated with deletion from the father on chromosome 15?

Prader-Willi Syndrome Signup and view all the answers

What are the characteristic symptoms of Angelman Syndrome?

Severe intellectual disability and seizures Signup and view all the answers

Which of the following statements about Beckwith-Wiedemann Syndrome is true?

It is identifiable at birth due to large size or gestational age. Signup and view all the answers

What is the inheritance pattern in cases caused by two copies of chromosome 11 from the father?

Uniparental disomy Signup and view all the answers

What condition is associated with impairments in neural stem cells due to ethanol exposure?

Cognitive dysfunction Signup and view all the answers

What describes the common features of Russell-Silver Syndrome?

Growth retardation and a triangular face Signup and view all the answers

In which population is typical and atypical methylation particularly relevant?

Children growing up in poverty Signup and view all the answers

Study Notes

Genes and Genetic Diseases

Genes influence all aspects of body structure and function.
Gene defects can lead to genetic diseases.
Genes control protein synthesis in the nucleus.
DNA's backbone consists of alternating phosphoric acid and deoxyribose molecules.
Bases (adenine-thymine, guanine-cytosine) attach to the deoxyribose molecules.
Genetic code is a sequence of three successive bases that control amino acid sequences.
Transcription is the process of transferring the genetic code from DNA to RNA.
RNA is transcribed in the nucleus and then diffuses into the cytoplasm.
RNA comes in various types like messenger RNA, transfer RNA, ribosomal RNA.
Ribosomes are the protein manufacturing plants in the cytoplasm.
Translation is the process of ribosomes creating proteins from messenger RNA.
Ribosomes can form proteins from a single messenger RNA molecule.
These proteins control all chemical reactions in the cell.

Cell Reproduction and Growth

Genes regulate cell growth and division.
Cell life cycles can range from 10 to 30 hours or a lifetime.
DNA replication is the first step in cell replication.
The DNA molecule creates an exact replica of the DNA.
Mistakes during DNA replication can occur, resulting in mutations.
Reproduction and growth involve mitosis, a multi-stage cell division process.
Not all cells replicate throughout their life (e.g., nerve cells).
Cell differentiation results from selective gene expression.

Chromosomal Disorders

Genetic disorders can arise from changes in chromosome structure or number.
Triploid zygotes have three copies of each chromosome, often resulting in miscarriage.
Aneuploidy entails having a non-multiple of 23 chromosomes per cell, often resulting in lethality.
Trisomy (13, 18, 21) is a condition with three copies of a chromosome, which are often survivable.
Deletion mutations entail losing genetic material from certain chromosomes.
Inversions result when breaks in a chromosome relocate and reinsert in an inverted order.
Translocations involve interchange of genetic material between unrelated chromosomes.
Fragile sites are areas of chromosomes with increased risk of breaks. These are sometimes associated with diseases (e.g., fragile X syndrome).

Common Genetic Diseases

Down syndrome (trisomy 21) is caused by extra chromosome 21, it results in an individual having a low IQ with certain facial characteristics.
Turner syndrome, results from only one X chromosome in females it affects 1 in 2500 newborn girls, it results in short stature and other features.
Klinefelter syndrome is a condition in males where they have two or more X chromosomes, this results in an individual with a male appearance but with small testes and other features.
Cystic fibrosis, a disease caused by a defective chloride transporter, leads to thick mucus secretions.
Type 1 diabetes involves autoimmune destruction of insulin-producing cells.
Type 2 diabetes involves insulin resistance.
Cancer results from the mutation of genes that control cell growth.
Genetic susceptibility increases the likelihood of cancer development, but environmental factors are key.
Examples of cancer types include breast, colorectal, and prostate cancers.
Heart disease is a very common disease. Causes are due to environmental and genetic factors, including obesity, smoking, high blood pressure, and high cholesterol.

Epigenetics and Disease

Epigenetics refers to gene modifications and expression that don't change the underlying DNA sequence.
Environmental factors and lifestyle impact the expression of genes.
DNA methylation, histone modifications, and RNA mechanisms are crucial for epigenetics.
Genetic factors interact with environmental and lifestyle factors in complex diseases.
Epigenetic alterations can occur during development and in response to environmental exposures like alcohol or toxins.
Some epigenetic modifications can persist throughout life and be passed to future generations.
Diseases like cancer, diabetes, and neurological disorders are associated with epigenetic changes.

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Description

Explore the fundamentals of genes, their roles in body structure and function, and the impact of gene defects leading to genetic diseases. This quiz covers essential processes like transcription and translation, as well as the types of RNA involved in protein synthesis. Test your knowledge on the intricate relationship between genetics and cellular functions.