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55 Cards in this Set

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What is a karyotype?
the set of chromosomes of a species. humans have 46.
Meiosis 1 produces 2 ___cells non identical
haploid!
What is independent assortment?
each pair of homologous chromosomes aligns independently of the pther pairs.
What is the formula for independent assortment?
2^n where "n" is the number of pairs of homologous chromosomes
2 genes are _____ if they are on the same chromosome.
linked
2 genes are ______ if they are on different (non-homologous) chromosomes
unlinked
linked genes that are how far apart assort independently?
50 map units or more
What is crossing over
swapping of DNA segments in Meiosis 1 btw non sister chromatids of homologous chromosomes.
What do you call the area of contact btw crossing over?
chiasmata.
Who is big man on the human genome project?
Francis Collins
How far apart are 2 genes if they crossover 1% of the time? 10%? 50%?
1 map unit, 10 map units, unlinked
About how many crossovers occur during Meiotic division? How many pre chromosome?
30-40

1-2
What are Mendels 3 laws?
USI
Unit inheritance-traits dtermined by genes which are inhreited as distinct units
Segregation-genes occur in pairs and each member separates from each other during meiosis
Independent assoprtment- unlinked genes assort independently
What is a specific location on a chromosome?
locus
What are different forms of a gene at a given locus?
alleles
What is a phenotype?
observed result of interaction btw genes and environment
What are Mendelian diseases?
Single gene defects
Dominance/Recessive refer to ________ and not _____
traits or phenotypes...not genes or alleles
What is codominance?
both of the alleles are expressed
Hereditary colon cancer
Huntington disease and Familial hypercholsterolemia are types of what kind of inheritance?
Autosomal dominant disorders
What are the 4 criteria for autosomal dominance inheritance?
1. trait in ever generation
2. trait transmitted to 1/2
3. Unaffected dont transmit
4. male and female equal likely of getting it
What is the usual pattern of inheritance for rare autosomal recesive trait?
Aa x Aa
What is the usual pattern of inheritance for rare autosomal trait?
Aa x aa
abnormal x normal
The probablity joint of ocurrences or 2 or more independent events is
product of their separate probablities.
What is the binomial formula?
(p+q)^n
p=probablity of one event
q=probability of alternate(s)(girl)
n=number of independent events (#kids)
____can produce an affected child from 2 seemingly unaffected parents
decreased penetrance
Penetrance is _____ or _____
all or none
If allele for dominant trait expressed they are_______, if no expression they are ___
penetrant
nonpenetrant
If 100 people have an allele but only 73 express it, we say______
73% penetrance
the DEGREE of expression of a trait in population refers to ________
variable expressivity
What is pleiotropy and what is it found with?
multiple secondary phenotypic effects from the primary genetic defect. Variable expressivity
Typical age of onset of phenylketonuria, galactosemia, cystic fibrosis
soon after birth
typical onset age for Tay-Sachs, Duchenne, muscular dystrophy
During first year of life
Typical onset age for hereditary juvenile glaucoma
young adulthood
Typical disease with variable onset ages
Diabetes mellitus
Huntington's chorea
_____ is when different mutations give rise to similar phenotypes
Genetic heterogeneity
______ are different mutations at the same locus
allelic heterogeneity
_____ are mutations at different loci
locus heterogeneity
_______ are environmentally produced traits that mimic eentic defects such as iodine deficiency goiter
phenocopies
____refers to traits that have a genetic component but must have an environmental trigger.
genetic predisposition
a ________ is an autosomally transmitted but expressed ONLY in one sex, sex hormones regulate geen expression, and an example is precocious puberty
Sex-limited
______ is autosomally transmitted but expressed differently in males and females, sex hormones affect, example is male pattern baldness
sex-influenced
________ is the differential expression of alleles depending on parent of origin
genomic imprinting
___refers to traits whose expression has earlier age onset as passed from generation to generation
Huntington's disease, CAG repeats
anticipation
Hyperlipidemias type I and II
most enzyme deficiencies
cystic fibrosis and Tay-sachs are all examples of what kind of inheritance
Autosomal recessive
What are the 4 criteria for Autosomal recessive inheritance?
1. only in sibs, not parents/offspring
2. 1/4 risk
3. Parents of affected may be consanguineous
4. Males and Females equal
____ is the more rare a disease, the more likely the mating of close relatives
consanguinity
In _______ heterozygotes have about 1/2 the normal activity of hexose-amindase
Tay-Sachs
______carriers can be detected by Hb electrophoresis
Sickle Cell
Males are ___ for X-linked traits
hemizygous
Hemophilia A, Duchenne Musc Dys, and G6PD are examples of what type of inheritance?
X-linked recessive
What are 4 criteria for X linked recessive?
1. much higher in males
2. Passed from affected man to through all his daughters to half their sons
3. Never from Father to son
4. May be from carrier females, the affected males related to each thru females
Apparant male to males transmission of X linked recessive from father to son can occur when?
the allele is very common
Hypophoshphatemia (Vit D rickets) and Ornithine transcarbamoylase deficiency are examples of what type of inheritance?
X linked dominance
What are the 3 criteria for X linked dominant?
1. Affected males give to all daughters and no sons
2. Affected females homo =transmit to all children, hetro=pass to 1/2
3.in rare Xlinked dom, females twice as common but in milder form.