Genome and Genetic Variation

What percentage of DNA do humans share, highlighting the subtle yet significant nature of genetic variation?

Clinical features of specific genetic diseases are a core part of the course examination criteria.

Which of the following best describes a single nucleotide variant (SNV)?

A genetic variant is considered a common variant if it has an allele frequency of greater than ______ in a population.

Match the following types of DNA variation with their corresponding descriptions:

In cDNA nomenclature, if the 'A' of the ATG initiation codon is designated as nucleotide #1, how are upstream nucleotides numbered?

Terms such as 'SNP', 'polymorphism', and 'mutation' are still the best terms for describing genetic variation in modern genetics and are encouraged.

Which of the following best explains 'anticipation' in the context of genetic disorders?

In protein sequence nomenclature, amino acids are numbered starting with the initiation codon, which is designated as number ______.

Match the type of SNV effect with the correct description.

Which of the following is the most common cause of X-linked Duchenne muscular dystrophy?

Origins of sequence variants is never due to replication errors.

What size nucleotide units are found in Microsatellites?

In intronic sequence nomenclature, the sequence is numbered according to the first or last coding nucleotide in the nearest ______.

Match the disease with its repetitive expansion.

Which processes can cause DNA damage?

Microsatellites never have a clinical impact.

Deamination accounts for about what percentage of substitutions?

Diseases can show anticipation through only one parent, such as Myotonic Dystrophy/Fragile X ( ______ ) / Huntington (paternal).

Match the following uses for microsatellites with their descriptions:

State the minimum allele frequency percentage that determines if a genetic variant is common.

Define genetic 'anticipation' in neurological disorders associated with dynamic repeats.

If a DNA sequence change results in a codon that still codes for the same amino acid, it is described as what?

Dynamic repeats adhere to typical Mendelian inheritance patterns.

What is the key characteristic of microsatellites that makes them easily detectable using PCR?

What is the minimum number of base pairs that must change for SNV to result in shift of the codon reading frame (frameshift)?

List the three uses for Microsatellites.

According to the information about anticipation, which parent is typically associated with Huntington’s disease?

Charcot-Marie-Tooth disease is a neuropathy mediated with direct repeats.

Which of the following is most susceptible to DNA damage?

Larger the Dynamic repeat's expansion, the more stable it becomes for the next generation.

Provide two potential roles for ALU elements in CNVs.

Describe three effects that may result from SNVs on gene products.

Non-Allelic Homologous Recombination (NAHR) favors what?

Factor VIII inversions are mediated by direct repeats.

What level of change can cause dynamic repeats?

Provide four characteristics of anticipation

Synonymous (silent) sequence change alters an amino acid coded.

Replication fork movement can cause discontinuous synthesis, also known as ______ fragment.

Which of the following events best describes the nonsense single nucleotide variant?

A common allele frequency of a variant is greater than 10% in general.