Genetics Terminology List Flashcards
aPTT
Activated partial thromboplastin time
Autosomal dominant
A pattern of inheritance that describes a condition in which only one copy of an abnormal gene is present in order for the disease or trait to develop.
Autosomal recessive
A pattern of inheritance that describes a condition in which two copies of an abnormal gene must be present in order for the disease or trait to develop.
Carrier
An individual who possess a certain genetic trait and is capable of passing it to offspring but who may or may not exhibit symptoms of the disease.
CF
Cystic Fibrosis
CFTR
Cystic fibrosis transmembrane regulator
CRC
Colorectal cancer
EMG
Electromyography
FH
Familial hypercholesterolemia
FSHD
Facioscapulohumeral muscular dystrophy
Gene sequencing
The process used to determine the nucleic acid sequence in DNA
Genome
The entire genetic material of an organism, including genes, noncoding DNA, and mitochondrial DNA
Genotype
The genetic makeup of an individual
HBOC
Hereditary breast and ovarian cancer
HD
Huntington’s disease
HeFH
Heterozygous familial hypercholesterolemia
LDL-C
low-density lipoprotein cholesterol
MMR
Mismatch repair
OPMD
Oculopharyngeal muscular dystrophy
Phenotype
The observable characteristics expressed by genes
PT
Prothrombin time
Sex-linked
Indicates that a genetic trait is located on one of the sex chromosomes, X or Y; most often, genetic traits that are sex-linked are located on the larger X chromosome
Variant
A deviation in the most common DNA sequence for a gene
Xanthoma
A condition characterized by an abnormal deposition of fatty growths within the connective tissue
