Exam 32: Advances in Neurogenetics: The Study of Huntington Disease

Explain how the use of sequencing technologies finally brought the search for the HD gene to a close as reported by the Huntington's Disease Collaborative Research Group.

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Question 1

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Sequencing of the contigs that covered the end of Chromosome 4 that had been previously identified as the location of the HD locus revealed an "interesting contig" that contained a CAG repeat sequence.The population of individuals without HD had 17 alleles with CAG repeats varying from 11 to 34 copies.HD individuals had alleles with 42-66 repeats of the CAG trinucleotide.HD was known to be a trinucleotide repeat disease and the research group proposed HTT as the gene responsible for HD and named its gene product huntingtin.

Other neurodegenerative diseases also function through aggregation of misfolded proteins.However,the initial protein aggregates are different in each disease.Work on HD may still be vital to treating other diseases as_______ . A)not all neurodegenerative disease spread B)the method of disaggregation is similar in all neurodegenerative disease C)other neurodegenerative diseases use axonal transport to spread to unaffected cells D)the method of aggregation is the same in all neurodegenerative disease

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Huntington's disease HD)is the model neurodegenerative disease because_______ .

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Question 3

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The second study by Gusella demonstrated four haplotypes for HD based on the restriction enzyme HindIII. Which haplotype demonstrated linkage to the disease phenotype?

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Question 4

How does the development of protein aggregates in Huntington's disease bring about dementia in patients?

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Question 5

Researcher Xiao- Jiang Li has used _______to edit the exon of hua mutant HTT allele in mice.Three weeks after the injection of therapeutic into the brain the mice demonstrated a reduction in protein aggregates.

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Question 6

Gene silencing has been effective in mouse models of HD that are heterozygous for the mHTT gene.The results are promising as_______ .

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Question 7

The success of Gusella,Wexler,and their colleagues in mapping both the G8 marker and HD gene to chromosome 4 launched a new branch of genetics called_______ .

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Question 8

HD is known as a polyQ disease.How does "polyQ" relate to HD?

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Question 9

How do Parkinson's causing aggregates enter unaffected cells?

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Question 10

HD was the first example of complete dominance in human inheritance.Describe the impact this has on inheriting the disease state.

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Question 11

An important study of HD conducted by A.Yamamoto demonstrated that turning off the HTT gene early in the progression of the disease results in the aggregates being degraded and prevention of the disease.Explain how Yamamoto designed his experiment.

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Question 12

Huntington's observations of the disease that later took his name were published prior to the rediscovery of Gregor Mendel's work on inheritance.Support the argument that Huntington was describing a phenotype with complete dominance.

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Question 13

HD heredity seems to increase if a father inherits the mutant allele from his mother.This is most likely caused by_______ .

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Question 14

The favored model organism for studying the development of HD is_______ .

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Question 15

Neurogenetics is_______ .

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Question 16

Why does the mHTT gene have such wide- ranging effects in the disease state?

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Question 17

Early mapping of the HD gene was done using _______.

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Question 18

Since the discovery of the HTT gene,genetic testing for the number of CAG repeats has been developed.However,there are serious ethical questions raised by the prospect of prenatal testing as well as the testing of minors.Develop an argument for why minors should not be tested for HD unless they demonstrate juvenile HD symptoms.

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Question 19

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Exam 32: Advances in Neurogenetics: The Study of Huntington Disease

Explain how the use of sequencing technologies finally brought the search for the HD gene to a close as reported by the Huntington's Disease Collaborative Research Group.

Huntington's disease HD)is the model neurodegenerative disease because_______ .

The second study by Gusella demonstrated four haplotypes for HD based on the restriction enzyme HindIII. Which haplotype demonstrated linkage to the disease phenotype?

How does the development of protein aggregates in Huntington's disease bring about dementia in patients?

Researcher Xiao- Jiang Li has used _______to edit the exon of hua mutant HTT allele in mice.Three weeks after the injection of therapeutic into the brain the mice demonstrated a reduction in protein aggregates.

Gene silencing has been effective in mouse models of HD that are heterozygous for the mHTT gene.The results are promising as_______ .

The success of Gusella,Wexler,and their colleagues in mapping both the G8 marker and HD gene to chromosome 4 launched a new branch of genetics called_______ .

HD is known as a polyQ disease.How does "polyQ" relate to HD?

How do Parkinson's causing aggregates enter unaffected cells?

HD was the first example of complete dominance in human inheritance.Describe the impact this has on inheriting the disease state.

An important study of HD conducted by A.Yamamoto demonstrated that turning off the HTT gene early in the progression of the disease results in the aggregates being degraded and prevention of the disease.Explain how Yamamoto designed his experiment.

Huntington's observations of the disease that later took his name were published prior to the rediscovery of Gregor Mendel's work on inheritance.Support the argument that Huntington was describing a phenotype with complete dominance.

HD heredity seems to increase if a father inherits the mutant allele from his mother.This is most likely caused by_______ .

The favored model organism for studying the development of HD is_______ .

Neurogenetics is_______ .

Why does the mHTT gene have such wide- ranging effects in the disease state?

Early mapping of the HD gene was done using _______.

Introduction to Genetics

Mitosis and Meiosis

Mendelian Genetics

Extensions of Mendelian Genetics

Chromosome Mapping in Eukaryotes

Genetic Analysis and Mapping in Bacteria and Bacteriophages

Sex Determination and Sex Chromosomes

Chromosome Mutations: Variation in Number and Arrangement

Extranuclear Inheritance

DNA Structure and Analysis

DNA Replication and Recombination

DNA Organization in Chromosomes

The Genetic Code and Transcription

Translation and Proteins

Gene Mutation,dna Repair,and Transposition

Regulation of Gene Expression in Bacteria

Transcriptional Regulation in Eukaryotes

Post-Transcriptional Regulation in Eukaryotes

Epigenetic Regulation in Eukaryotes

Recombinant Dna Technology

Genomic Analysis

Applications of Genetic Engineering and Biotechnology

Developmental Genetics

Cancer Genetics

Quantitative Genetics and Multifactorial Traits

Population and Evolutionary Genetics

CRISPR and Genomic Editing

DNA Forensics

Genomics and Precision Medicine

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