Medical Genetics Competencies Quiz

Questions and Answers

What competency is related to the altered structure and function of the body in disease?

MK-01: Core of basic sciences

MK-05: The altered structure and function (correct)

MK-09: Critical thinking about medical science

MK-03: Basic human physiology

Which thread is connected to Medical Genetics in the context of the human genome?

Bioinformatics

H & I: Medical Genetics (correct)

Genetic Engineering

Pharmaceutical Development

What is the primary focus of the human genome?

To develop new medications

To track genetic disorders in populations

To document disease prevalence

To provide molecular instructions for structure and maintenance (correct)

Which educational program objective involves critical thinking about medical science?

MK-09: Critical thinking about medical science Signup and view all the answers

How many course objectives (COs) are listed in relation to the competencies?

Two COs Signup and view all the answers

Which section of the study connection discusses oncogenes and tumor suppressor genes?

Molecular Genetics Signup and view all the answers

What is one of the main topics covered by the session's curriculum connection?

Medical Genetics related to the human genome Signup and view all the answers

Which course objective specifically addresses knowledge of the core of basic sciences?

CO-01 Signup and view all the answers

What is the primary function of telomeres?

To protect chromosome ends from degradation Signup and view all the answers

What is telomerase composed of?

Both RNA and protein Signup and view all the answers

What is the structural unit of chromatin?

Nucleosome Signup and view all the answers

How much does the human genome compact its DNA into chromatin?

10,000-fold Signup and view all the answers

What does the nucleosome core particle consist of?

Histones H1, H2A, H2B, H3, H4 Signup and view all the answers

What is the width of a chromatin filament?

10 nm Signup and view all the answers

What is the role of linker histones in chromatin structure?

To bind to linker DNA and connect nucleosome core particles Signup and view all the answers

What is the approximate size of the human genome's DNA when uncoiled?

2 meters Signup and view all the answers

What is the purpose of biomarkers in therapeutic interventions?

They can monitor the effects of treatment when disease monitoring is impractical. Signup and view all the answers

What is cf-DNA primarily used for in medical diagnostics?

To detect diseases before noticeable symptoms occur. Signup and view all the answers

In what circumstance can cf-DNA be utilized after surgery?

To monitor for tumor metastases and disease recurrence. Signup and view all the answers

What contributes to the circulating genome?

DNA from healthy somatic cells, tumor cells, microbiome, and fetal DNA during pregnancy. Signup and view all the answers

What is the estimated genome variation between any two individuals?

0.1% to 0.6% Signup and view all the answers

Why are no two human beings said to have the exact same genomes?

Human reproduction always results in unique genetic combinations. Signup and view all the answers

What role do biomarkers have in cancer treatment monitoring?

They help track the effectiveness of treatments that may prevent cancer development. Signup and view all the answers

What is the significance of studying cf-DNA in diagnostic research?

It assists in early disease detection and monitoring of minimal residual disease. Signup and view all the answers

What are LTR retroposons derived from?

Human RNA retroviruses Signup and view all the answers

What happens to most LTR retroposons in the human genome today?

They have become permanent residents. Signup and view all the answers

Which of the following statements is true about LINE 1 sequences?

They are the only LINES still active in retrotransposition. Signup and view all the answers

What is a consequence of LINE 1 retrotransposition into cellular genes?

Insertional mutagenesis impacting gene function Signup and view all the answers

What is the primary function of LINE-encoded ncRNAs?

To repress retrotransposition of LINE 1 sequences Signup and view all the answers

Which type of retroposons are Alu sequences classified under?

SINES Signup and view all the answers

What characterizes non-LTR retrotransposons like LINES and SINES?

They are not derived from viral sequences. Signup and view all the answers

What evolutionary activity do LTRs at the ends of dormant retroposons indicate?

Past transposition activity Signup and view all the answers

Which gene mutations are commonly associated with familial breast cancer?

BRCA1/2, TP53, PTEN Signup and view all the answers

What type of analysis is most commonly performed by direct-to-consumer genetic testing services?

Microarray SNP analysis Signup and view all the answers

At what age should individuals begin to learn about changes in their breasts according to the recommendations?

18 Signup and view all the answers

What screening method is recommended annually after the age of 25?

Breast MRI with contrast Signup and view all the answers

How often should a clinical breast exam be conducted starting from age 25?

Every 6-12 months Signup and view all the answers

What should be considered for screening after age 75?

Individualized assessment Signup and view all the answers

Which of the following is NOT a recommended action if mutations are found?

Ignore family history Signup and view all the answers

What is the purpose of ordering a breast cancer gene panel DNA sequencing if there is a strong family history?

To identify possible genetic predispositions Signup and view all the answers

Study Notes

Curricular Connections

Competencies and educational objectives align with core basic sciences, particularly genetics.
Relevant disciplines include medical genetics, emphasizing the importance of understanding genetic principles in health and disease.

The Human Genome

The human genome consists of approximately two meters of DNA coiled within a cell nucleus measuring only about 20 µm.
Chromosomes are compacted into chromatin through protein-mediated condensation, achieving up to 10,000-fold compression.
A typical nucleosome comprises around 146 base pairs (bp) of DNA wrapped around a histone core consisting of H2A, H2B, H3, and H4 proteins.

Telomeres and Telomerase

Telomeres protect chromosome ends from degradation during DNA replication.
The enzyme telomerase, containing both RNA and protein, adds DNA sequences to telomeres, maintaining genomic integrity.

Retroposons and Genome Evolution

Retroposons include LTR retroposons (derived from human RNA retroviruses) and non-LTR retrotransposons (LINES and SINES).
LTR retroposons have historically infected germ cells but predominantly lost transposition ability over time.
LINE 1 is the only active retrotransposon, essential in maintaining genome stability; its dysfunction may contribute to insertional mutagenesis linked to cancers.

Circulating Cell-Free DNA (cf-DNA)

cf-DNA, derived from various sources (healthy cells, tumor cells, microbiome, fetal DNA), is studied for its potential as a biomarker for early disease detection.
Monitoring cf-DNA can aid in tracking tumor progression and assessing treatment effectiveness.

Genome Variation

Genetic variation among individuals ranges from 0.1% to 0.6%, leading to unique genetic profiles.
Understanding this variation is critical for personalized medicine and disease risk assessment.

Breast Cancer Genetic Testing

Mutations in genes such as BRCA1/2, TP53, and others are linked to hereditary breast cancer.
Recommendations for screening include clinical breast exams and imaging beginning at age 25 for individuals with strong family history.

Clinical Practice Recommendations

Direct-to-consumer (DTC) tests vary from clinical tests; understanding their nuances is crucial for patient education.
Genetic counseling is recommended for those with familial patterns indicative of breast cancer risk.

Practice Exam Questions

DTC testing usually involves microarray SNP analyses rather than whole genome or exome sequencing.
Nucleosome core particles are characterized by a histone composition of two copies of each H2A and H2B, and one copy of H3 and H4.
Genetic variation between populations (e.g., South Dakota and Kenya) emphasizes the diversity within the human genome.

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Description

Test your understanding of the core competencies in medical genetics, including the educational program objectives and learning outcomes. This quiz covers essential basic science topics related to genetics and its applications in medicine.