Genetics Basics Flashcards
4 types of genetics disorders
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4 types of genetics disorders
- Single Gene Disorders
- Chromosomal Disorders
- Mitochondrial Disorders
- Multifactoral/Complex Disorders
A mutation is defined as a permanent change in the nucleotide sequence
A polymorphism is defined as a variant with frequency above 1%
But do we use this terms? NO!!! Now we use
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A mutation is defined as a permanent change in the nucleotide sequence
A polymorphism is defined as a variant with frequency above 1%
But do we use this terms? NO!!! Now we use
Pathogenic variant
Likely pathogenic variant
Variant of uncertain significance (VUS)
Likely benign variant
Benign variant
aka just use the 5 diff types of VARIANTS!
The terms “mutation” and “polymorphism” often lead to confusion because of incorrect assumptions of pathogenic and benign effects, respectively. Thus, it is recommended that both terms not be used any more to describe the effect of a change
Chromosomal disorders are […]
Chromosomal disorders are disorders caused by a variation in structure or number of chromosome
How many pairs of chromosomes are there in the human nuclear genome?
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Which pair is sex chromosome?
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How many pairs of chromosomes are there in the human nuclear genome?
23 pairs
Which pair is sex chromosome?
23rd pair
Mitochondrial genome disorders are […]
Mitochondrial genome disorders are conditions that arise due to defects in the mitochondrial genome (i.e not the nuclear genome)
Multifactorial/Complex Disorders are […]
Multifactorial/Complex Disorders are disorders that arise as a consequence of many factors working tgt
These factors can be
- many genes (polygenic)
- many genes and environmental factors
- many environmental factors
Penetrance vs variable expression
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Penetrance vs variable expression
Penetrance in genetics is the proportion of individuals carrying a particular variant (or allele) of a gene (the genotype) that also express an associated trait (the phenotype). (SINGLE GENE)
Variable expression describes the phenomenon of differing clinical features or phenotype among individuals carrying the same gene allele or genotype
Expressivity differs from penetrance, which describes the probability that a genetic variation (or allele) will yield the phenotype at all.
Single Gene Disorders are […]
Single Gene Disorders are disorders caused by a defect in 1 particular gene
They can be
autosomal dominant (AD)
Autosomal recessive (AR)
X linked recessive (XLR)
X linked dominant (XLD)
Y linked
What are the two types of genomes within most human cells?
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What are the two types of genomes within most human cells?
Nuclear genome
Mitochondrial genome
most cells have nuclear genome except for the mature RBC
What does these symbols mean?
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What does these symbols mean?
What does these symbols mean?
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What does these symbols mean?
What is the central dogma of biology?
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What is the central dogma of biology?
Gene = DNA –> RNA –> Protein
What is the genetic difference between each individuals that makes us so different from each other?
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What is the genetic difference between each individuals that makes us so different from each other?
just the 0.5%
We are 99.5% similar in terms of genetics
