Genetics Exam 1 Flashcards
Which organisms has characteristics that make them useful for genetic analysis
Model genetic organism
What are the fundamental unit of heredity
Genes
Genes come in multiple form called
Alleles
Genetic information is carried in
DNA and RNA
Where are genes located
on chromosomes
How do chromosomes seperate
mitosis and meiosis
Some traits are affected by multiple factors. True/false
true
genes are known to be defined as
DNA sequences
What are long molecules of double stranded DNA and protein which contain genes
Chromosomes
Two of each chromosomes are called
Homologs
Whatis a similarity of mitosis and meoisis in terms of chromosomes
chromosomes are both copied and distributed
The two resulting daugter cells from Mitosis are called
Diploid
The resulting chromosomes from Meiosis are called
Haploid cells
The resulting gametes in meoisis receive how many chromosomes
half the number of chromosomes
The hereditary material in chromosomes is called
DNA
Which scientyist brought the idea of double helix
Watson and Crick
Where are the sugar phosphate backbones located
on the outside
What are the characteristics of Automosomal recessive trait
- Usually appears in both sex with equal frequency
- tend to skip generations
- Affected offspring are usually born to unaffected parents
- When both parents are hetero, approximately 1/4 children are affected
- appears more frequently with children of consanguineous marriages
Mating between related person is called
Consanguinity
The person from whom the pedigree is initiated is known as
Proband
Characteristics of autosomal dominant
- Unaffected parents do not transmit the trait
- Both sexes transmit the trait to the offspring
- Does not skip generation
- Affected offspring must have affected parents unless they possess new mutation
- when one parent is affected and the other is unaffected, approximately half of the offspring will be affected
Characteristics of X-linked recessive trait
- usually affects more males than females
- Affected sons are usually born to unaffected mothers, so skips generations
- Approximately half of a carrier (heterozygous) mother’s sons are affected.
- Never pass from father to son
- All daughters of affected fathers are carriers.
Characteristics of X-linked Dominant Trait
- Both males and females affected, mostly females
- Does not skip generation so affected sons must have affected mothers, affected daughter has affected mother or affected father
- Affected fathers pass the trait to all their daughter
- Affected mothers (hetero) pass trait to half daughter or half sons
Characteristics of Y-linked trait
- only males are affected
- Passed from father to all sons
- Does not skip generations
Dizygotic twins means
nonidentical twins
Monozygotic twins means
identical twins
when a trait is chared by both members of a twin pair, it is called
concordant trait
What is the key difference between Amniocentesis and Chorionic villus sampling
There is no culturing required in CVS
Describe amniocentesis
- A sterile needle is inserted into the AMNIOTIC SAC using ultrasound
- A small amount of amniotic fluid is withdrawn through the needle
3.Amniotic fluid contains fetal cells which are separated from the fluid - and cultured
- then tests are performed on the cells
Describe CVS
- CVS can be performed early in pregnancy
- A catheter is inserted through vagina and cervix into uterus
- it is placed in contact with chorion, outer layer of placenta
- Suction removes a small piece of chorion
- cells of chorion used for genetic test and no culturing required
Genes at the same locus or two version of the same gene with each version of same gene is defined as
allele
Types of dominance
Complete
Incomplete
Codominance
When a phenotype of heterozygote falls in between or can be distinguished from either homozygotes. This is called
Incomplete dominance
Heterozygotes include phenotypes of both homozygotes. this is called
Codominance
The percentage of individuals having a particular genotype that express the expected phenotype
Penetrance
The degree to which a trait is expressed is called
Expressivity
Which allele causes death at an early stage of development, so some genotypes may not appear
Lethal allele
A lethat allele affects genotypic and phenotypic ratio to
2:1 instead of 3:1
The AY mutation is caused by a deletion that affects which 2 genes
Agouti and Raly
This gene produces protein essential for mouse development
Raly
The deletion of Raly gene does what
connects the Raly promoter to the Agouti gene which leads to excess yellow pigment in heterozygotes and death in homozygotes
Huntington Disease (HD) is what type of allele
Dominant lethal allele, abnormalities not expressed until after individual has reproduced
Around what age does HD usually show up
late 30s or 40s