GENE-IE IN THE BOTTLE
This term refers to any change in the DNA sequence that can alter gene function.
Mutation
This inheritance pattern affects both sexes equally and shows a 50% transmission risk from an affected parent.
Autosomal dominant
This condition, caused by a point mutation in the HBB gene, leads to abnormal hemoglobin formation.
Sickle cell anemia
This type of inheritance passes mutations only from mothers and affects energy-demanding tissues.
Mitochondrial inheritance
This simple molecular technique uses primers to amplify a specific DNA region.
Polymerase Chain Reaction (PCR)
These are common, non-pathogenic DNA variations used for mapping and identity testing.
Polymorphisms
In this pattern, both alleles must be mutated for the phenotype to appear.
Autosomal recessive
This autosomal recessive disease is caused by mutations in the CFTR gene, affecting chloride channels.
Cystic fibrosis
An abnormal expansion of trinucleotide repeats causes anticipation in this neurodegenerative disease.
Huntington’s disease (CAG expansion)
This method uses fluorescently labeled DNA probes to visualize chromosomal abnormalities.
Fluorescence in situ hybridization (FISH)
In the double helix, this base pairs with cytosine via three hydrogen bonds.
Guanine
This term describes when individuals with the same genotype show varying degrees of clinical severity.
Variable expressivity
A G→A mutation at position 20210 of this gene increases risk of thrombosis.
Prothrombin gene (F2)
If the paternal 15q11–q13 is deleted, the child develops this condition characterized by hyperphagia and hypotonia.
Prader–Willi syndrome
This method differentiates DNA fragments by length using electric current in a gel matrix.
Gel electrophoresis
The addition of methyl groups to CpG islands results in this gene expression outcome.
Transcriptional silencing
The percentage of individuals with a particular genotype who actually display the phenotype is called ____.
Penetrance
This gene mutation (C677T) impairs folate metabolism and increases homocysteine levels.
MTHFR gene mutation
The same deletion on maternal 15q11–q13 leads to this condition with seizures and inappropriate laughter.
Angelman syndrome
This next-gen technique sequences millions of DNA fragments in parallel for comprehensive mutation analysis.
Next-Generation Sequencing (NGS)
These proteins wrap around DNA and can be modified through acetylation or methylation to control gene accessibility.
Histones
This pattern affects mostly males, with females acting as carriers, as seen in Hemophilia A.
X-linked recessive
A deletion in this dystrophin gene leads to severe progressive muscle weakness.
Duchenne muscular dystrophy (DMD)
This term describes the coexistence of both normal and mutant mitochondrial DNA within the same cell.
Heteroplasmy
This hybridization-based test uses immobilized oligonucleotides to detect multiple polymorphisms at once.
DNA microarray or genotyping chip