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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.
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, genetics
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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
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