Human Genome Project and Gene Therapy Overview

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Questions and Answers

What is the primary role of RNA in the cell?

To store genetic information

To replicate DNA

To synthesize carbohydrates

To transfer genetic code from the nucleus to the ribosome (correct)

What type of linkage connects ribonucleotides in RNA?

Hydrogen bonds

3’-5’ phosphodiester linkage (correct)

Ionic bonds

5’-3’ phosphodiester linkage

What structural feature allows RNA to form complex shapes?

Being composed of purines only

A double helix structure

Folding into three-dimensional shapes and forming hairpin loops (correct)

The presence of ribose sugar

What is a codon?

A triplet of nucleotide bases in mRNA coding for an amino acid (C) Signup and view all the answers

What signals the termination of translation in mRNA?

The presence of stop codons (C) Signup and view all the answers

What collective term is used to refer to all the genes in human beings?

Genome (B) Signup and view all the answers

What was the main goal of the Human Genome Project?

To map and understand all human genes (A) Signup and view all the answers

What can happen to cellular machinery due to viruses?

It undergoes alteration (D) Signup and view all the answers

What is the primary purpose of injecting a virus carrying a gene directly into defective cells?

To specifically target and rectify certain populations of cells (C) Signup and view all the answers

Which condition is NOT mentioned as being treated with in-body gene therapy?

Severe combined immunodeficiency (B) Signup and view all the answers

What agent is commonly used in out-of-the-body gene therapy for SCID?

Retroviruses (A) Signup and view all the answers

What is a significant risk associated with using retroviruses in gene therapy?

They may integrate into unintended DNA locations, disrupting other genes (C) Signup and view all the answers

What percentage of children treated for SCID have reportedly been cured?

90% (B) Signup and view all the answers

Why is timing important in treating genetic disorders like SCID?

All of the above (D) Signup and view all the answers

In which case is in-body gene therapy preferred over out-of-the-body gene therapy?

When specific parts of the body need targeting (D) Signup and view all the answers

Which of the following is a common disorder treated using in-body gene therapy?

Parkinson's disease (D) Signup and view all the answers

What can result from DNA mutations?

Complete elimination of a gene's function (A), Permanent changes in DNA sequence (C) Signup and view all the answers

What type of mutation is characterized by changes that are inherited from parents?

Germ line mutations (A) Signup and view all the answers

Which statement is true regarding de novo mutations?

They occur randomly in egg or sperm (B) Signup and view all the answers

What is an example of an environmental agent that can cause DNA mutations?

UV wavelengths from sunlight (D) Signup and view all the answers

Which of the following describes the mutation type that involves the addition or deletion of nucleotides?

Insertion/Duplication/Deletion mutation (D) Signup and view all the answers

What aspect of mutations can vary widely among different mutations?

The severity of the mutation's effect (B) Signup and view all the answers

Which of the following statements correctly describes acquired mutations?

They typically arise due to environmental agents (D) Signup and view all the answers

Which characteristic is least likely associated with DNA mutations?

Only single nucleotide alterations (A) Signup and view all the answers

What is the approximate number of human genes identified by the Human Genome Project?

20,500 (C) Signup and view all the answers

What is the primary purpose of gene therapy?

To treat or prevent diseases using genes (A) Signup and view all the answers

Which of the following is NOT a method being tested in gene therapy?

Activating a dormant gene (B) Signup and view all the answers

Why is gene therapy considered risky?

It can cause mutations in healthy genes (B) Signup and view all the answers

In what year was gene therapy first tested in humans?

1990 (A) Signup and view all the answers

Which diseases are currently being targeted by gene therapy?

Diseases with no other cures (C) Signup and view all the answers

What can be a possible outcome of gene therapy?

Replacement of ineffective traditional treatments (B) Signup and view all the answers

Where can gene therapy be performed?

Both inside and outside the body (A) Signup and view all the answers

What characteristic of DNA contributes to its ability to preserve information for long periods?

It is durable and can endure the right conditions. (C) Signup and view all the answers

Which aspect of DNA is crucial for evolution?

Its capacity to mutate and provide variation. (B) Signup and view all the answers

What is a potential future concern regarding DNA storage mentioned in the content?

The accessibility and control over information. (D) Signup and view all the answers

Which of the following components is NOT a part of a chromosome as listed in the content?

Nucleus (A) Signup and view all the answers

In what type of environment does DNA best remain preserved?

Dark, dry, and cold conditions. (B) Signup and view all the answers

Which feature of DNA makes it possible for the next generation to retain parental characteristics?

Its ability to replicate well. (D) Signup and view all the answers

What is the function of proteins coded by DNA?

To express genes and traits. (B) Signup and view all the answers

Which of the following statements about DNA is inaccurate?

DNA cannot change over time. (D) Signup and view all the answers

Study Notes

Human Genome Project (HGP)

HGP estimated approximately 20,500 human genes.
Completed sequence provides detailed information on gene structure, organization, and function.
Information serves as inheritable instructions for human development and function.

Gene Therapy

Experimental technique to treat or prevent diseases through genes.
Potential to replace mutated genes with healthy ones, knock out defective genes, or introduce new genes.
Currently tested for diseases without other cures, including inherited disorders and some cancers.
First human trials began in 1990; genetic material can be delivered inside or outside the body.

Applications of Gene Therapy

Intrabody treatment involves injecting genes directly into affected cells (e.g., Parkinson's disease, eye diseases).
Out-of-body gene therapy used for conditions like severe combined immunodeficiency (SCID).
Retroviruses, like HIV, effectively insert genes into host cell DNA; over 90% of treated SCID patients have been cured.

Risks of Gene Therapy

Retroviruses may disrupt other genes, potentially leading to leukemia.
Five out of 30 SCID patients treated experienced complications, but most overcame cancer.

RNA (Ribonucleic Acid)

RNA is a polymer of ribonucleotides crucial for protein synthesis.
Functions to transfer genetic code from the nucleus to ribosomes, protecting DNA from damage.
Unlike DNA, RNA can fold into complex structures and loops.

Triplet Codons

Codons consist of three nucleotide bases in mRNA, coding for specific amino acids.
Termination of translation occurs at stop codons.

DNA Mutations

Permanent alterations in DNA sequence, varying in severity.
Types include germ line mutations (heritable) and acquired mutations (not heritable).
De novo mutations can appear without family history due to chance events after fertilization.

Types of Mutations

Insertions, duplications, or deletions can change DNA sequences.
Mutagens like UV light can induce acquired mutations leading to conditions like skin cancer.

DNA as a Storage Medium

Durable and capable of preserving information for thousands of years.
Proper storage conditions include darkness, dryness, and low temperatures.

Conclusion on DNA

Essential for life; enables replication and variation leading to evolution.
DNA codes for proteins that express genes and traits.

Chromosome Structure

Key components include pellicle, matrix, chromatids, centromeres, satellite, and telomeres.

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Description

This quiz dives into the Human Genome Project (HGP) and its insights into human genes. It also explores the experimental gene therapy techniques aimed at treating various diseases, including inherited disorders and cancers. Test your knowledge on gene structure, therapy applications, and historic milestones in genetics.