Genetics Terminology List

Question 1

aPTT

Answer 1

Activated partial thromboplastin time

Question 2

Autosomal dominant

Answer 2

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.

Question 3

Autosomal recessive

Answer 3

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.

Question 4

Carrier

Answer 4

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.

Question 5

CF

Answer 5

Cystic Fibrosis

Question 6

CFTR

Answer 6

Cystic fibrosis transmembrane regulator

Question 7

CRC

Answer 7

Colorectal cancer

Question 8

EMG

Answer 8

Electromyography

Question 9

FH

Answer 9

Familial hypercholesterolemia

Question 10

FSHD

Answer 10

Facioscapulohumeral muscular dystrophy

Question 11

Gene sequencing

Answer 11

The process used to determine the nucleic acid sequence in DNA

Question 12

Genome

Answer 12

The entire genetic material of an organism, including genes, noncoding DNA, and mitochondrial DNA

Question 13

Genotype

Answer 13

The genetic makeup of an individual

Question 14

HBOC

Answer 14

Hereditary breast and ovarian cancer

Question 15

HD

Answer 15

Huntington’s disease

Question 16

HeFH

Answer 16

Heterozygous familial hypercholesterolemia

Question 17

LDL-C

Answer 17

low-density lipoprotein cholesterol

Question 18

MMR

Answer 18

Mismatch repair

Question 19

OPMD

Answer 19

Oculopharyngeal muscular dystrophy

Question 20

Phenotype

Answer 20

The observable characteristics expressed by genes

Question 21

PT

Answer 21

Prothrombin time

Question 22

Sex-linked

Answer 22

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

Question 23

Variant

Answer 23

A deviation in the most common DNA sequence for a gene

Question 24

Xanthoma

Answer 24

A condition characterized by an abnormal deposition of fatty growths within the connective tissue

Question 25

X-linked

Answer 25

Indicates that a genetic trait is located on the X chromosome