Genetics in Clinical Practice

Question 1

What is an allele?

Answer 1

Different form of a gene at a locus

Question 2

What is a locus?

Answer 2

Position of a gene on a chromosome

Question 3

What are genotypes and phenotypes?

Answer 3

Genotypes - genetic constitution

Phenotype - clinical effect of expressed genes

Question 4

What are heterozygous and hemizygous

Answer 4

Heterozygous - individuals with different alleles at a specific locus
Hemizygous - presences of only one single copy of genes

Question 5

What is aneuploidy?

Answer 5

Occurrence of one or more extra or missing chromosomes leading an unbalanced chromosome compliment