Advanced Mendelian Genetics Flashcards
What are alleles
Different variants of the same genes
What is a locus
The region of DNA where alleles of a gene correspond to
Define dominant allele
Allele that produces an effect on the phenotype when present in either one or two copies (PP or Pp)
Define recessive allele
An allele that produces an effect on phenotype only when there is no dominant allele present (pp)
What is a wild type allele?
The strain that is most common in the wild
Why is it okay to have one mutant allele and one normal allele when the gene codes for an enzyme?
Because in most cases, having half the amount of enzyme is enough to allow reaction to proceed as normal
Define haplosufficient
When only one working copy is necessary/sufficient for normal expression of the gene’s function.
Is the functional or non-functional (mutant) allele dominant in haplosufficiency?
The functional gene is the dominant one
Which allele is dominant in haploinsufficency?
The mutant allele is dominant
What will the phenotype of a heterozygous gene look like in haploinsufficency
Mutant phenotype (unlike haplosufficiency where one working allele would have been enough to produce normal phenotype)