30 Questions
What is the inheritance pattern where male and female children each have a 50% chance of developing the disease?
Autosomal dominant
Which type of disease inheritance results in both sexes having a 25% chance of developing the disease?
Autosomal recessive
In X-linked recessive diseases, what is the chance of males developing the disease?
50%
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
What is the approximate frequency at which DNA polymorphisms occur?
$1/1,000$ nucleotides
How are genetic markers often identified in simple experimental organisms?
By observing visible mutations
What is the purpose of synthetic lethality screens mentioned in the text?
To identify genes that have redundant functions
What happens in knockout mice during stem cell manipulations?
Both copies of a gene of interest are disrupted
How are ES cells with the neo r gene selected during stem cell manipulations?
Using positive selection on G148
What is the role of ganciclovir in stem cell manipulations?
It blocks DNA replication in cells with nonhomologous recombination
What happens when the DNA construct in ES cells inserts via nonhomologous recombination?
The DNA construct integrates into the genome
What percentage of cells experience homologous recombination during the introduction of a disrupted allele of a gene X into ES cells?
A small percentage
What is the main purpose of identifying novel molecular markers of human diseases?
To develop useful molecular assays for disease detection
What is the advantage of using molecular markers in human diseases?
Reduce patient morbidity and mortality
In the context of molecular genetics, what type of disorders are associated with chromosomal disorders?
Chromosomal disorders
What is the focus of molecular oncology?
Disease prognosis and predisposition determination
What is the purpose of identity testing in hematopathology?
Clinical testing
What does infectious disease testing primarily involve?
Microbial identity testing
What technology has facilitated the development of molecular diagnostics?
Recombinant DNA Technology
Which technique is used for single-strand conformation polymorphism?
Denaturing gradient gel electrophoresis
What is the purpose of a DNA micro-array?
Analyze gene expression
In molecular assays, what type of alterations are considered for diseases?
Morphologic alterations
What can be detected through ligase chain reaction (LCR)?
Single base changes
What does NASBA stand for in the context of molecular diagnostics?
Nucleic-acid sequence-based amplification
What is the minimum number of copies of a dominant negative allele needed to exhibit a phenotype in an animal?
One copy
How is a dominant negative allele typically inserted into the genome in transgenic mice?
Nonhomologous recombination
What is the function of GEF proteins in relation to small GTPases?
Activate GTPases
How do short interfering RNAs (siRNAs) block gene expression in RNA interference?
By binding to mRNA and triggering degradation
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
Which enzyme is responsible for processing longer dsRNAs into short interfering RNAs (siRNAs)?
Dicer
Explore how a dominant negative allele is introduced into transgenic mice germ line DNA, leading to the expression of a phenotype with just one copy of the allele. Learn about the method of transgene insertion, nonhomologous recombination, and regulated promoters for tissue-specific expression.
Make Your Own Quizzes and Flashcards
Convert your notes into interactive study material.
Get started for free
