Transgenic Mice and Dominant Negative Alleles

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What is the inheritance pattern where male and female children each have a 50% chance of developing the disease?

Autosomal dominant (correct)

X-linked recessive

Autosomal recessive

Y-linked

Which type of disease inheritance results in both sexes having a 25% chance of developing the disease?

X-linked recessive

Mitochondrial

Autosomal dominant

Autosomal recessive (correct)

In X-linked recessive diseases, what is the chance of males developing the disease?

25%

75%

100%

50% (correct)

Which method is used to locate the position of a disease gene when phenotypic markers are uncommon in humans?

Genetic mapping with known genetic markers Signup and view all the answers

What is the approximate frequency at which DNA polymorphisms occur?

$1/1,000$ nucleotides Signup and view all the answers

How are genetic markers often identified in simple experimental organisms?

By observing visible mutations Signup and view all the answers

What is the purpose of synthetic lethality screens mentioned in the text?

To identify genes that have redundant functions Signup and view all the answers

What happens in knockout mice during stem cell manipulations?

Both copies of a gene of interest are disrupted Signup and view all the answers

How are ES cells with the neo r gene selected during stem cell manipulations?

Using positive selection on G148 Signup and view all the answers

What is the role of ganciclovir in stem cell manipulations?

It blocks DNA replication in cells with nonhomologous recombination Signup and view all the answers

What happens when the DNA construct in ES cells inserts via nonhomologous recombination?

The DNA construct integrates into the genome Signup and view all the answers

What percentage of cells experience homologous recombination during the introduction of a disrupted allele of a gene X into ES cells?

A small percentage Signup and view all the answers

What is the main purpose of identifying novel molecular markers of human diseases?

To develop useful molecular assays for disease detection Signup and view all the answers

What is the advantage of using molecular markers in human diseases?

Reduce patient morbidity and mortality Signup and view all the answers

In the context of molecular genetics, what type of disorders are associated with chromosomal disorders?

Chromosomal disorders Signup and view all the answers

What is the focus of molecular oncology?

Disease prognosis and predisposition determination Signup and view all the answers

What is the purpose of identity testing in hematopathology?

Clinical testing Signup and view all the answers

What does infectious disease testing primarily involve?

Microbial identity testing Signup and view all the answers

What technology has facilitated the development of molecular diagnostics?

Recombinant DNA Technology Signup and view all the answers

Which technique is used for single-strand conformation polymorphism?

Denaturing gradient gel electrophoresis Signup and view all the answers

What is the purpose of a DNA micro-array?

Analyze gene expression Signup and view all the answers

In molecular assays, what type of alterations are considered for diseases?

Morphologic alterations Signup and view all the answers

What can be detected through ligase chain reaction (LCR)?

Single base changes Signup and view all the answers

What does NASBA stand for in the context of molecular diagnostics?

Nucleic-acid sequence-based amplification Signup and view all the answers

What is the minimum number of copies of a dominant negative allele needed to exhibit a phenotype in an animal?

One copy Signup and view all the answers

How is a dominant negative allele typically inserted into the genome in transgenic mice?

Nonhomologous recombination Signup and view all the answers

What is the function of GEF proteins in relation to small GTPases?

Activate GTPases Signup and view all the answers

How do short interfering RNAs (siRNAs) block gene expression in RNA interference?

By binding to mRNA and triggering degradation Signup and view all the answers

In cells expressing both wild type and dominant-negative GTPase alleles, what happens to the function of GEF proteins?

They become complexed with the mutant GTPase Signup and view all the answers

Which enzyme is responsible for processing longer dsRNAs into short interfering RNAs (siRNAs)?

Dicer Signup and view all the answers