SF.32: Intro to Medical Genetics/ Vocabulary

Question 1

threadlike structures made of protein and a single molecule of DNA that serve to carry the genomic information from cell to cell

Answer 1

chromosome

Question 2

how many pairs of chromosomes do humans have?

Answer 2

22 pairs of autosomes and 1 pair of sex chromosomes

Question 3

a branch of biology focused on the study of chromosomes and their inheritance

Answer 3

cytogenetics

Question 4

disorders in single genes such as inheritance patterns

Answer 4

Mendelian Conditions

Question 5

change in DNA sequence of an organisms
can be result of errors in DNA replication during cell division

Answer 5

variant/ mutation

Question 6

______ variants occur in eggs and sperm and can be passed on to offspring

Answer 6

germline

Question 7

______ variants occur in body cells and are not passed on

Answer 7

somatic

Question 8

1 of 2+ versions of DNA sequence at a given genomic location
an individual inherits 1 form each parent

Answer 8

allele

Question 9

if 2 alleles are the same, the individual is _______ for that allele

Answer 9

homozygous

Question 10

if 2 alleles are different, the individual is _______ for that allele

Answer 10

heterozygous

Question 11

another word for normal sequence

Answer 11

wildtype

Question 12

variant in one allele in the X chromosome

Answer 12

hemizygous

Question 13

a physical site or location within a genome

Answer 13

locus

Question 14

a scoring of the type of variant present at a given location in the genome

Answer 14

genotype

Question 15

refers to an individual’s observable traits such as height, eye color and blood type

Answer 15

phenotype

Question 16

a person’s phenotype is determined by both their __________ & _________

Answer 16

genomic makeup (genotype) & environmental factors