Summary

Summary Genetics flashcards

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Institution
PEARSON (PEARSON)

This is a document of my own Quizlet flashcards from my Biology A level revision. It includes the majority of important terms from the topic. There are 33 terms and definitions on the topic and 4 at the end with terms and no definition to fill in. If you would prefer to cut up the definitions and s...

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Uploaded on April 19, 2023
Number of pages 5
Written in 2020/2021
Type Summary

allele
locus
gene
genotype
phenotype
dominant
homozygous
cystic fibrosis
cvs
pgd
epigenetics
totipotent
lac operon

genetics
Study online at https://quizlet.com/_b1ck8g

1. gene A segment of DNA on a chromosome that codes for a
specific trait

2. allele a different version of a gene

3. locus Location of a gene on a chromosome

4. genotype the genetics an organism has

5. phenotype An organism's physical appearance, or visible traits coded
for by the genotype

6. dominant the allele that only requires one copy to be expressed

7. recessive the allele which requires two copies in order to be ex-
pressed

8. incomplete domi- when neither allele is dominant over the other so a mixture
nance of the two alleles form
e.g. red flowers + white flowers = pink flowers

9. co-dominance both alleles contribute to the phenotype
e.g. brown cow + white cow = brown and white patch cow

10. homozygous when an organism has two of the same copy of an allele

11. heterozygous when an organism has two different versions of the allele

12. monohybrid in- - the study of how the alleles of just one gene are passed
heritance from parents to offspring
- shows the crossing over of two organisms genetics for
one genetic trait

13. dihybrid inheri- The inheritance of two characteristics which are controlled
tance by different genes from two parents

14. cystic fibrosis a genetic inherited disease causing severe issues with
lungs and other organs

15.
1/5

, genetics
Study online at https://quizlet.com/_b1ck8g
healthy lung - CFTR gene codes for CFTR carrier protein in cell mem-
function brane which actively transports Cl- ions across the mem-
brane into the mucus
- this causes the mucus to become hypertonic to outside
the mucus so water moves into mucus via osmosis to
prevent mucus becoming sticky
- therefore the mucus can be removed in the trachea by
the cilia

16. CF lung function - faulty CFTR gene codes for faulty CFTR carrier protein
in cell membrane causing protein to change shape so
the protein can't actively transport Cl- ions across the
membrane into mucus
- therefore water doesn't move into mucus and mucus
becomes too sticky to move
- therefore the mucus can't be removed in the trachea by
the cilia

17. symptoms of CF - wheezing and coughing
- difficulty breathing
- chest infections
- fertility issues as sperm ducts get blocked
- growth issues as pancreatic duct gets blocked

18. genetic screen- - methods of finding out whether a baby will have certain
ing traits or genetics for diseases

19. CVS - Fetal DNA from placental tissue is tested
- 11th-14th week
- Identifying genetic disorders in the fetus

20. pros and cons of pros:
CVS - earliest in pregnancy so foetus is less developed
- prepares parents/ gives choice of abortion
- tests for life limiting illness
cons:
- risk of miscarriage
- risk of false positives/negatives
- can't cure disease, just gives choice of abortion which

2/5

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