Inheritance and Disorders Flashcards
(29 cards)
What is a gene?
A sequence of bases in DNA coding for a sequence of amino acids in a polypeptide
What is an allele?
A version of a gene
What is a phenotype?
The expression of the genotype and its interaction with the environment
What is a genotype?
The combination of alleles and individuals
What is a heterozygous?
Having 2 different alleles of a gene
What is a homozygous?
Having 2 of the same alleles of a gene
What is dominant?
An allele that is always expressed in the phenotype if no dominant allele is present
What is recessive?
An allele that is only expressed in the phenotype if no dominant allele is present
What is a sex linkage?
A gene that is carries on the X chromosome Y
What is a carrier?
One of 2 alleles carried by this person is the recessive allele for a disorder
What is affected?
Disease phenotype
What is non - affected?
Non diseased phenotype
What is an example of a homozygous dominant genotype?
RR
What is an example of a homozygous recessive genotype?
dd
What is an example of a heterozygous genotype?
Pp
What is a genotype of someone who has cystic fibrosis?
ff
What is the genotype of someone who is a carrier for cystic fibrosis?
Ff
What is a problem does cystic fibrosis create?
Thick sticky mucous by goblet cells, digestive and reproductive tract
What is a cause of cystic fibrosis?
Chloride ion channel protein not functioning so cl - ions cannot be passed out of the cell
What is a dietary consequence of cystic fibrosis?
Need higher energy content
What does thick mucous in pancreatic duct reduce?
Release of directive enzymes in duodenum
How is cystic fibrosis detected?
Screened - newborn heel prick test
Sweat test
What does the sweet test result in if someone has cystic fibrosis?
Higher concentration of salt
What is the genotype of someone who suffers with Huntingtons disease?
HH
Hh
