Biomarkers, Genomics, and Cystic Fibrosis Lecture Flashcards

A set of vocabulary flashcards covering the definitions of biomarkers, genomics, and the specific diagnostic and physiological characteristics of Cystic Fibrosis based on lecture materials.

Biomarker

A biological marker or measurable indicator of a condition, disease, diagnosis, or progression, such as $U\&E$, $LFT$, $FBC$, $HLA\,B*5701$, $WBC$, or $eGFR$, used to determine how a patient may respond to treatment.

Genomics

The analysis of DNA and genetic/genome variations to understand their link to disease diagnosis or treatment.

Whole Genome Sequencing (WGS)

The process of sequencing the entire DNA of an individual to study their genomics.

Targeted Gene Sequencing (TGS)

Sequencing a specific portion of a gene known to be involved in a disease.

Polymorphisms

Changes in the DNA sequence that may not have a significant impact on the individual.

Single Nucleotide Polymorphisms (SNPs)

Changes at single base positions in a DNA sequence that contribute to disease, particularly when occurring in combination with multiple other changes.

Cystic Fibrosis (CF)

An autosomal recessive inherited monogenic disorder caused by mutations in one gene, resulting in the production of thick, sticky mucus in the lungs, digestive system, and reproductive system.

Autosomal

Pertaining to any chromosome that is not a sex chromosome.

Recessive

An inheritance pattern where two copies of a gene mutation, one from each parent, are required for the disorder to be expressed.

Monogenic

A condition caused by a mutation in a single gene.

CFTR Gene

The longest gene, which can have over $2000$ mutations contributing to CF, encoding for the cystic fibrosis transmembrane conductance regulator protein.

CFTR Protein

A channel in the plasma membrane that allows chloride, sodium, and bicarbonate ions to enter and leave the cell; its dysfunction leads to an accumulation of chloride inside the cell and subsequent water reabsorption.

Blood Spot Test (Heel Prick Test)

A newborn screening test that measures an increase in immunoreactive trypsin ($IRT$) in the blood.

Sweat Test

A diagnostic test for older children that measures chloride levels in sweat induced by a muscarinic cholinergic agonist.

Pilocarpine

A muscarinic cholinergic agonist used during a sweat test to activate sweat glands via an electrical impulse.

Genetic Test (SNP Variants)

A diagnostic method targeting the specific $30$ points in the gene where variants occur in $85-90\%$ of CF patients.

DeltaF508

The most common mutation in the UK, which prevents the CFTR protein from being expressed on the plasma membrane at all.

FEV1

A pulmonary biomarker measuring lung function that is often low in CF patients and used to assess treatment efficacy.

Nasal Potential Difference (NPD)

A direct measurement of CFTR function in the respiratory epithelium, performed using a biopsy of upper respiratory tract ($URT$) tissue to measure chloride movement.

Infection Biomarkers

Secondary biomarkers, such as bacterial burden, $PCR$-based detection, and inflammatory markers, that test the outcomes and symptoms of a disease rather than its direct cause.