Genetic Aetiology of Human Disease

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Questions and Answers

What is the basic unit of genetic information?

Gene

Nucleotide

Codon (correct)

Amino acid

What is the difference between dominant and recessive mutations?

Dominant mutations require both alleles to carry the mutation to exhibit the disease phenotype, while recessive mutations require only one mutated allele to exhibit the disease phenotype.

Dominant mutations require only one mutated allele to exhibit the disease phenotype, while recessive mutations require both alleles to carry the mutation to exhibit the disease phenotype. (correct)

Dominant mutations do not exhibit the disease phenotype, while recessive mutations require both alleles to carry the mutation to exhibit the disease phenotype.

Dominant mutations require both alleles to be normal to exhibit the disease phenotype, while recessive mutations require only one mutated allele to exhibit the disease phenotype.

What is the difference between Mendelian and complex diseases?

Mendelian diseases are caused by multiple variations across many genes and have a dichotomy or discontinuous presentation of phenotype, while complex diseases are caused by multiple mutations or genes and have a continuous and discontinuous presentation of phenotype.

Mendelian diseases and complex diseases are the same thing.

Mendelian diseases are caused by single mutations or genes and have a dichotomy or discontinuous presentation of phenotype, while complex diseases are caused by multiple variations across many genes and have a continuous and discontinuous presentation of phenotype. (correct)

Mendelian diseases are caused by multiple variations across many genes and have a continuous and discontinuous presentation of phenotype, while complex diseases are caused by single mutations or genes and have a dichotomy or discontinuous presentation of phenotype.

What is the difference between mutations and polymorphisms?

Mutations create a distinct phenotype, while polymorphisms contribute to normal variation within a population and are neither necessary nor sufficient for phenotype. Signup and view all the answers

What is the difference between RFLPs and SNPs?

RFLPs and SNPs have different frequencies, number of alleles, location, and detection method. Signup and view all the answers

What types of mutations can affect the transcript and gene product?

Single base pair substitution, single nucleotide polymorphism, and mutations in regulatory sequences, RNA processing, and translation Signup and view all the answers

What causes Duchenne’s muscular dystrophy?

Deletion mutations in the Dystrophin gene Signup and view all the answers

What is Huntington's disease caused by?

Trinucleotide repeat disorders at the 5' end of the Huntingtin gene Signup and view all the answers

What can genome-wide association studies and sequencing aid in?

Determining the effects of polymorphisms Signup and view all the answers

What is the basic unit of genetic information?

Codons Signup and view all the answers

What is the difference between dominant and recessive mutations?

Dominant mutations require only one mutated allele to exhibit the disease phenotype, while recessive mutations require both alleles to carry the mutation to exhibit the disease phenotype. Signup and view all the answers

What is the difference between Mendelian and complex diseases?

Mendelian diseases are caused by single mutations or genes and have a dichotomy or discontinuous presentation of phenotype, while complex diseases are caused by multiple variations across many genes and have a continuous and discontinuous presentation of phenotype. Signup and view all the answers

What is the difference between mutations and polymorphisms?

Mutations contribute to normal variation within a population and are neither necessary nor sufficient for phenotype, while polymorphisms create a distinct phenotype. Signup and view all the answers

What are the different types of variation in human genomes?

RFLPs, SNPs, minisatellites, and microsatellites Signup and view all the answers

What can affect the transcript and gene product?

Single base pair substitution Signup and view all the answers

What causes Huntington's disease?

Expansion of trinucleotide repeats in the Huntingtin gene Signup and view all the answers

What are complex diseases likely to have?

Multiple variations across many genes Signup and view all the answers

What can aid in determining the effects of polymorphisms and confirming their role in disease aetiology?

Genome-wide association studies and sequencing Signup and view all the answers

Study Notes

Genetic Aetiology of Human Disease: Understanding Variations in Human Genomes

The triplet code, also known as a codon, is the basic unit of genetic information.
The genetic code consists of 64 possible codons that code for 20 different amino acids and three stop signals.
Mutations are the original source of genetic variation, and they can be somatic or germline.
Dominant mutations require only one mutated allele to exhibit the disease phenotype, while recessive mutations require both alleles to carry the mutation to exhibit the disease phenotype.
Mendelian diseases are caused by single mutations or genes and have a dichotomy or discontinuous presentation of phenotype, while complex diseases are caused by multiple variations across many genes and have a continuous and discontinuous presentation of phenotype.
Mutations create a distinct phenotype, while polymorphisms contribute to normal variation within a population and are neither necessary nor sufficient for phenotype.
Different types of variation include RFLPs, SNPs, minisatellites, and microsatellites, each with a different frequency, number of alleles, location, and detection method.
Single base pair substitution, single nucleotide polymorphism, and mutations in regulatory sequences, RNA processing, and translation can affect the transcript and gene product.
Deletion mutations in the Dystrophin gene cause Duchenne’s muscular dystrophy, while trinucleotide repeat disorders are caused by the expansion of trinucleotide repeats and can alter the expression/structure of a protein.
Huntington's disease is an autosomal dominant disease caused by CAG repeats diseases at the 5' end of the Huntingtin gene, which leads to late onset neuronal loss.
Complex diseases are still being studied to determine their genetic causes, which are likely to have subtle effects on gene function and are mostly in non-coding regions.
Genome-wide association studies and sequencing can aid in determining the effects of polymorphisms, confirming their role in disease aetiology, and increasing our knowledge of how the genome is regulated to aid in drug development or therapeutic treatments.

Genetic Aetiology of Human Disease: Understanding Variations in Human Genomes

The triplet code, also known as a codon, is the basic unit of genetic information.
The genetic code consists of 64 possible codons that code for 20 different amino acids and three stop signals.
Mutations are the original source of genetic variation, and they can be somatic or germline.
Dominant mutations require only one mutated allele to exhibit the disease phenotype, while recessive mutations require both alleles to carry the mutation to exhibit the disease phenotype.
Mendelian diseases are caused by single mutations or genes and have a dichotomy or discontinuous presentation of phenotype, while complex diseases are caused by multiple variations across many genes and have a continuous and discontinuous presentation of phenotype.
Mutations create a distinct phenotype, while polymorphisms contribute to normal variation within a population and are neither necessary nor sufficient for phenotype.
Different types of variation include RFLPs, SNPs, minisatellites, and microsatellites, each with a different frequency, number of alleles, location, and detection method.
Single base pair substitution, single nucleotide polymorphism, and mutations in regulatory sequences, RNA processing, and translation can affect the transcript and gene product.
Deletion mutations in the Dystrophin gene cause Duchenne’s muscular dystrophy, while trinucleotide repeat disorders are caused by the expansion of trinucleotide repeats and can alter the expression/structure of a protein.
Huntington's disease is an autosomal dominant disease caused by CAG repeats diseases at the 5' end of the Huntingtin gene, which leads to late onset neuronal loss.
Complex diseases are still being studied to determine their genetic causes, which are likely to have subtle effects on gene function and are mostly in non-coding regions.
Genome-wide association studies and sequencing can aid in determining the effects of polymorphisms, confirming their role in disease aetiology, and increasing our knowledge of how the genome is regulated to aid in drug development or therapeutic treatments.

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Test your knowledge of the genetic basis of human diseases with our quiz on "Genetic Aetiology of Human Disease: Understanding Variations in Human Genomes." From the basics of the genetic code to the types of mutations and variations that can cause diseases, this quiz covers a wide range of topics. See how much you know about Mendelian and complex diseases, different types of variations, and the latest research on how genome-wide association studies and sequencing can help us understand and treat diseases. Sharpen your