6P: Pedigree analysis of monogenic disorders

Question 1

Genome

Answer 1

Total genetic material of a cell or an organism

Question 2

Gene

Answer 2

DNA sequence encoding functional molecules (mRNA, tRNA, rRNA, miRNAs)

Question 3

Allele

Answer 3

Variant of a gene

Question 4

Multiple allelism

Answer 4

Gene has many alleles in the population

Question 5

Wild allele

Answer 5

Most frequent allele of a gene in the population

Question 6

Locus

Answer 6

Position of a gene in the chromosome

Question 7

Genotype

Answer 7

Set of alleles that make up genetic constitution, either at all loci, or more typically at a single locus

Question 8

Homozygote

Answer 8

A person has two identical alleles

Question 9

Heterozygote

Answer 9

A person has two different alleles (one normal, one mutant)

Question 10

Complex (compound) heterozygote

Answer 10

A person with two different mutant alleles

Question 11

Hemizygote

Answer 11

A person carries only a single copy of a gene

Question 12

Phenotype

Answer 12

Observable expression of a genotype

Question 13

Dominant

Answer 13

Is expressed even in heterozygote form

Question 14

Recessive

Answer 14

Is expressed only in homozygote form

Question 15

Codominant

Answer 15

Both different alleles are expressed