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6 Cards in this Set

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What are genes?


Where exactly are the genes found?


What are chromosomes made of?


What are the two types of proteins and their structure?



Genes: Inherited information. Has instructions for making proteins in organisms to control how they develop and function.


Where found: In the chromosomes in the nuclei of cells.


Chromosomes: Made of DNA. A gene is a section of a DNA molecule.


STRUCTURAL proteins build the body, e.g. collagen in tendons.


FUNCTIONAL proteins take part in chemical reactions in of the body, e.g. enzymes in amylase.

What is Huntington's disease?


What are the symptoms?


How do parents pass on their genes?


When do male foetus' testes develop and how?


What do testes produce then and what do they do?


Why are there females who actually have XY chromosomes.



Huntingtons: Inherited disorder caused by a dominant allele. Symptoms don't show until middle age.


Symptoms: Forgetfulness. Problems controlling muscles. Mood swings


Parents pass on their genes through sex cells. Sex cells have half the copy of the parent's chromosomes. When fertilised, full set of chromosome is made and embryo is formed.


Male foetus' testes develop at 6 weeks old, and this is caused by a gene in Y chromosome called SRY.


Testes produce male hormones called androgens which give them male features. No androgens? Develops into female.


Females can sometimes have XY chromosomes and be affected with a short vagina, infertility, no periods and internal testes because body makes androgens and cells don't take notice.

What are alleles?


What is a genotype?


What is a phenotype?

Alleles: Different versions of the same gene


Genotype: The alleles you inherit


Phenotype: What you look like, e.g. dimples or not.

What is cystic fibrosis?


What are the symptoms?


What treatment is there for CF?


Name 2 ways foetus can be screened for CF?



Cystic Fibrosis: Inherited disorder caused by recessive alleles.


Symptoms: Mucus is thicker than it should be because cells that make it don't work properly. Blocks lungs. Blocks tubes taking enzymes from pancreas to gut. Breathlessness. Shortage of enzymes in gut mean digestion problems leading to shortage of nutrients. Infertile as affects reproductive system.


Treatment: Physio helps clear mucus from lungs. Tablets are taken with missing gut enzymes in. Enzyme spray used to thin mucus in lungs.


Amniocentesis: Syringe out amniotic fluid and investigate


Chorionic Villus: Suck cells from placenta and investigate.

How can Huntington's disease be prevented?


Outline steps in this process.


Why aren't genetic tests completely reliable?


How can patients react differently to medicines? Solution?

Pre-implantation Genetic Diagnosis.


Steps: Fertility drugs containing hormones release eggs. Eggs are collected in small operation. Man's sperm fertilises it in petri dish. (IVF). At 8 cell stage, one cell is removed from each. Tested for Huntington's. Only embryos without it are planted inside uterus.


Reliability: False -ve results when CF not detected, but actually there. False +ve results if vice versa, but rarer due to tech fault.


Patients react differently as some produce enzymes that break down drugs quickly so need higher dose. Other's dont produce enzymes so can be poisoned. Genetic testing can solve this and tailor person to correct medicine.

Implications of insurance companies knowing about your genetic disorder?

They might not insure you, or charge a high premium.