Genetics, Multiples and Unusual Births Study Guide Flashcards
What are Genetics?
Genetics is the study of the way animals and plants pass on information to their offspring
What are examples of genetics?
Eye color, hair color, height, body build, blood types, intelligence, gender, etc.
What are Chromosomes? Where can you find them?
Chromosomes are threadlike structures of nucleic acids and protein found in the nucleus of most living cells that carry genetic information in the form of genes
How many chromosomes are you supposed to have?
23 pairs of chromosomes (46 in total) in regular cells; 23 chromosomes in reproductive cells
How many chromosomes are from each parent?
23 from each parent
When does conception occur?
When the ovum/egg and sperm come together; When the ovum/egg is fertilized by the sperm
What is the difference between a dominant vs. recessive gene?
Dominant genes are the more powerful trait in a person while recessive genes are the weaker trait in a person. You need only 1 dominant gene for the trait to be expressed, whereas you need 2 recessive genes for the trait to be expressed.
What is a carrier gene? Give one example.
A carrier gene is a recessive gene that is not visible. One example of a carrier is someone with one cystic fibrosis gene that will not have cystic fibrosis but will give cystic fibrosis to their child if the other parent also has the cystic fibrosis gene.
What is a sex linked gene? Give one example.
A sex-linked gene is when a mother passes a recessive gene down to her son on her X gene. One example of a sex linked gene is when a mom has the gene for color-blindness and passes it on to her son, even though the gene is not expressed for her.
What is the purpose of Genetic Counseling?
The purpose of genetic counseling is to identify the likelihood of passing certain genetic diseases or disorders onto your children. It is done by evaluating family history and medical records, ordering genetic tests, and evaluating the results of the investigation. The best time to see a genetic counselor is before getting pregnant.
Achondroplasia: definition, 2 symptoms, and life expectancy
Definition: A bone growth disorder that causes disproportionate dwarfism
Symptoms: Short in stature, normal sized torso, short limbs
Life expectancy: Can be fatal if the person has homozygous achondroplasia but lifespan is normal for other people with achondroplasia
Cystic fibrosis: definition, 2 symptoms, and life expectancy
Definition: A life-threatening disorder that causes severe damage to the lungs and digestive system
Symptoms: Thick mucus, trouble breathing, more prone to diseases
Life expectancy: Most people with cystic fibrosis live into their 20s-30s but some are living into their 40s-50s
Down syndrome: definition, 2 symptoms, and life expectancy
Definition: A genetic disorder caused when an abnormal cell division results in extra genetic material from Chromosome 21
Symptoms: Distinct facial features, heart problems
Life expectancy: Average life expectancy of someone with down syndrome is 60 years
Hemophilia: definition, 2 symptoms, and life expectancy
Definition: A bleeding disorder that slows the blood clotting process
Symptoms: Uncontrollable bleeding, joint pain, large and frequent bruising
Life expectancy: Life expectancy for men with hemophilia varies depending on the quality of medical care they can receive, but the average life expectancy is about 10 years shorter than it is for the general male population
Progeria: definition, 2 symptoms, and life expectancy
Definition: An extremely rare and progressive genetic disorder that causes children to age rapidly
Symptoms: Slowed growth, hair loss, thinning and wrinkled skin
Life expectancy: The average life expectancy for someone with progeria is about 13-14 years, but some people have been able to live into their 20s