Study sets matching "mendelian inheritance"

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Study sets matching "mendelian inheritance"

18 terms
Mendelian Inheritance
Allele
Homozygous
Heterozygous
Probability
One of several variant forms of a gene
Having two copies of the same allele
Having two different alleles
The chance of an event occurring.
Allele
One of several variant forms of a gene
Homozygous
Having two copies of the same allele
18 terms
Mendelian Inheritance
Mendel's First Law
Mendel's Second Law
Mendelian Inheritance
Codominant
-Law of segregation... -In meiosis, alleles separate from each o…
-Law of Independent Assortment... -In meiosis, the segregation o…
-Transmission of inherited characters from generation to gene…
Both traits are expressed in heterozygote
Mendel's First Law
-Law of segregation... -In meiosis, alleles separate from each o…
Mendel's Second Law
-Law of Independent Assortment... -In meiosis, the segregation o…
12 terms
Mendelian Inheritance
Autosomal dominant
Autosomal dominant
Achondroplasia (autosomal dominant)
ADPKD (adult dominant polycystic kidne…
Direct transmission from an affected parent to an affected ch…
Most common cause of dwarfism... Mutation in the Fibroblast Grow…
Autosomal dominant disease... Cysts form throughout the kidney... C…
Autosomal dominant
Direct transmission from an affected parent to an affected ch…
Autosomal dominant
19 terms
Mendelian Inheritance
Allele
Codominance
Dominant allele
Genetics
one of two or more different versions of the same gene
relationship between two alleles for the same gene in which b…
allele that masks the presence of another allele for the same…
the science of heredity
Allele
one of two or more different versions of the same gene
Codominance
relationship between two alleles for the same gene in which b…
5 terms
Mendelian Inheritance
Codominance
Incomplete Dominance
Polygenic Characteristic
Probability
A condition in which neither of two alleles of a gene is domi…
Situation in which one allele is not completely dominant over…
characteristic, or trait, controlled by more than one gene, e…
A number that describes how likely it is that an event will o…
Codominance
A condition in which neither of two alleles of a gene is domi…
Incomplete Dominance
Situation in which one allele is not completely dominant over…
32 terms
Mendelian Inheritance
allele
gene
genotype... --hemizygous
phenotype
different versions of a gene ... - is one of a number of alterna…
a locus (or region) of DNA that encodes a functional RNA or p…
part (DNA sequence) of the genetic makeup of a cell, and ther…
- characteristics of a person, effects of genes + environment…
allele
different versions of a gene ... - is one of a number of alterna…
gene
a locus (or region) of DNA that encodes a functional RNA or p…
Mendelian Inheritance
Gregor Mendel
Mendels Experiments
Genes and Alleles/Characters and Traits
Self Pollination
-In 1865, Gregor Mendel announced that he had worked out the…
-What are the basic patterns in the transmission of traits fr…
He used ... ---seed color... ---seed shape... ---pod color... ---pod shap…
-Another key to his success was that Mendel performed crosses…
Gregor Mendel
-In 1865, Gregor Mendel announced that he had worked out the…
Mendels Experiments
-What are the basic patterns in the transmission of traits fr…
Mendelian Inheritance
mendelian
compound heterozygotes
pleiotropic
hemizygous
term describing single gene. About 0.36% of newborns (1% in t…
this type of heterzygosity doesn't have a wild type allele
A term used to define a single gene influences more than one…
contains only one allele of a gene because the other isn't pr…
mendelian
term describing single gene. About 0.36% of newborns (1% in t…
compound heterozygotes
this type of heterzygosity doesn't have a wild type allele
36 terms
Mendelian Inheritance
Pedigree
Blending Inheritance
Gregor Mendel ... (1822-1884)
Why pea plants?
a diagram used in the study of human genetics that shows the…
parental contribution is averaged out, or blended, in offspring
used pea plants to study inheritance; demonstrated Particulat…
1. Easy to control pollination ... 2. Shows variation in a numb…
Pedigree
a diagram used in the study of human genetics that shows the…
Blending Inheritance
parental contribution is averaged out, or blended, in offspring
61 terms
Mendelian Inheritance
Example of a polymorphism
pleiotropic
compound heterozygote
hemizygous
different eye colors
single abnormal gene or gene pair can produce multiple phenot…
has two heterogeneous recessive alleles at a particular locus…
single allele (i.e. male with an abnormal allele for a gene o…
Example of a polymorphism
different eye colors
pleiotropic
single abnormal gene or gene pair can produce multiple phenot…
32 terms
Mendelian Inheritance
Alleles
Gene
Genotype:... Heterozygous... Homozygous... Hemi…
Phenotype
Different versions of a gene
Sometimes = transcription unit... Sometimes = ALLELE
Genotype:... Heterozygous: an individual with 2 different allel…
Characteristics of a person ... Effects of genes + environment
Alleles
Different versions of a gene
Gene
Sometimes = transcription unit... Sometimes = ALLELE
50 terms
Mendelian Inheritance
Allele
Binomial Expansion Equation
Characters
Cross
alternative form of a specific gene
all of the possibilities for a given set of unordered events
a general characteristic of an organism (i.e. eye color)
mating between two distinct individuals. An analysis of their…
Allele
alternative form of a specific gene
Binomial Expansion Equation
all of the possibilities for a given set of unordered events
28 terms
Mendelian Inheritance
Monohybrid Cross
Law of Segregation
Punnett Square
Dihybrid Cross
This is a cross in which the experimenter is only following o…
In a diploid individual, the two copies of the genes separate…
A punnet square can be used to predict outcomes of genetic cr…
Similar to a monohybrid cross, only following two traits this…
Monohybrid Cross
This is a cross in which the experimenter is only following o…
Law of Segregation
In a diploid individual, the two copies of the genes separate…
Mendelian Inheritance
Mendelian Inheritance criteria
3 Classical Mendelian Inheritance Patt…
Determination of pattern of inheritanc…
Autosomal Dominant Inheritance
-single-gene disorders: determined primarily by the alleles a…
-Autosomal Recessive... -Autosomal Dominant... -X-linked
1. Whether the chromosomal location of the gene locus is on a…
-one copy of the allele carries mutation: enough to cause dis…
Mendelian Inheritance criteria
-single-gene disorders: determined primarily by the alleles a…
3 Classical Mendelian Inheritance Patt…
-Autosomal Recessive... -Autosomal Dominant... -X-linked
15 terms
Mendelian inheritance
heterozygous
homozygous dominant
homozygous recessive
Mendel
a genotype that is One dominant and one recessive allele (Exa…
a genotype that is 2 dominant alleles (example: BB)
a genotype that is 2 recessive alleles (example: bb)
the scientist that discovered that traits are recessive and d…
heterozygous
a genotype that is One dominant and one recessive allele (Exa…
homozygous dominant
a genotype that is 2 dominant alleles (example: BB)
62 terms
Mendelian Inheritance
Somatic Cells
Autosome
Allosome
Gametes
-not gametes. *All the cells in the body that are NOT sex cel…
-Any chromosome not considered a sex chromosome (1-22)
-also Gonosomes or sex chromosomes (X and Y)
-Ova and sperm cells.... -haploid... -Have 1 copy of each chromosom…
Somatic Cells
-not gametes. *All the cells in the body that are NOT sex cel…
Autosome
-Any chromosome not considered a sex chromosome (1-22)
58 terms
Mendelian Inheritance
define allele. Give an example of an a…
Define gene. Differentiate sickle cell…
what are the 3 types of genotypes?
Give a common example of homozygotes a…
allele - different versions of a gene... beta-hemoglobin gene…
Gene: sometimes = transcription unit, other times = allele... s…
Genotype:... - Heterozygote: an individual with two different al…
homozygotes - females - xx... hemizygotes - males xy (only has o…
define allele. Give an example of an a…
allele - different versions of a gene... beta-hemoglobin gene…
Define gene. Differentiate sickle cell…
Gene: sometimes = transcription unit, other times = allele... s…
26 terms
Mendelian Inheritance
What is a Hemizygote ?
What genotype is most likely present i…
What is the reason why Homozygotes for…
What is Fitness ?
A gene with only 1 allele
Heterozygous
What is a Hemizygote ?
A gene with only 1 allele
What genotype is most likely present i…
Heterozygous
Mendelian inheritance
compound heterozygote
double heterozygote
autosomal dominant. parents will have.…
Neurofibromatosis 1
two mutant alleles; one on each chromosome
heterozygous at two differnt loci
autosomal dominant; cafe au lait and neurofibromas, scoliosis
compound heterozygote
two mutant alleles; one on each chromosome
double heterozygote
heterozygous at two differnt loci
Mendelian Inheritance
segregation
independent assortment
locus
allele
...
...
...
...
segregation
...
independent assortment
...
Mendelian Inheritance
Gene
Chromatid
Non-Disjunction
Polygenic Traits
DNA on a chromosome, codes for protein
one side of the chromosome
mutation where homologous chromosomes or chromatids fail to s…
many traits controlled by more than one gene
Gene
DNA on a chromosome, codes for protein
Chromatid
one side of the chromosome
Mendelian Inheritance
gene
trait
allele
heterozygous
DNA sequence
specific characteristic
alternative forms of a gene
two copies of different alleles
gene
DNA sequence
trait
specific characteristic
5 terms
Mendelian Inheritance
1st Law
2nd Law
Penetrance
Mosaicism
Independent Segregation - Equal probability that an allele wi…
Independent Assortment - transmission of an allege at one loc…
The proportion of people with a particular genotype who manif…
Presence of genetically distinct cell lines in the same indiv…
1st Law
Independent Segregation - Equal probability that an allele wi…
2nd Law
Independent Assortment - transmission of an allege at one loc…
25 terms
Mendelian Inheritance
Mendel's First Law
Mendel's Second Law
codominant
semi-dominant or incompletely dominant
The Law of Segregation. At meiosis, alleles separate (or segr…
The Law of Independent Assortment. At meiosis, the segregatio…
both traits (alleles) are expressed in the heterozygous state
heterozygous phenotype is intermediate between the two homozy…
Mendel's First Law
The Law of Segregation. At meiosis, alleles separate (or segr…
Mendel's Second Law
The Law of Independent Assortment. At meiosis, the segregatio…
19 terms
Mendelian Inheritance
Blending Inheritance
Particulate Theory of Inheritance
Anther
filament
An outdated, disreputed theory that the phenotype of an offsp…
-parents transmit heritable factors "genes" that remain disti…
Produces pollen
Supports the anther
Blending Inheritance
An outdated, disreputed theory that the phenotype of an offsp…
Particulate Theory of Inheritance
-parents transmit heritable factors "genes" that remain disti…
27 terms
Mendelian Inheritance
Trait
True-breeding organism
Hybrid
Cross
a particular version of a characteristic that is inherited, s…
an organism that produces offspring that are genetically iden…
the offspring of 2 different true-breeding plants
the successful mating of 2 organisms from distinct genetic li…
Trait
a particular version of a characteristic that is inherited, s…
True-breeding organism
an organism that produces offspring that are genetically iden…
17 terms
Mendelian Inheritance
The person from whom the pedigree is i…
Unaffected person... Person affected with…
Family - 1 boy, 2 girls... Adoption... Twins…
Appears equally in males and females... S…
Proband
Name the following categories.
Name the connections in the pedigree
Autosomal Recessive Inheritance
The person from whom the pedigree is i…
Proband
Unaffected person... Person affected with…
Name the following categories.
Mendelian Inheritance
"blending" idea
"particulate" hypothesis
character
trait
genetic material from the two parents blends together (like b…
the idea that parents pass on discrete heritable units (genes)
a heritable feature that varies among individuals (such as fl…
each variant for a character, such as purple or white color f…
"blending" idea
genetic material from the two parents blends together (like b…
"particulate" hypothesis
the idea that parents pass on discrete heritable units (genes)
Mendelian Inheritance
Pangenesis
Preformationism
Blending Inheritance
Mendel's Experiments
"Seeds" gathered from all over the body and transmitted to th…
Early microscopists saw a hmunculus in the sperm. "Spermists"…
Heritable factors are malleable. They are blended during repr…
His experiments with pea plants established the first known r…
Pangenesis
"Seeds" gathered from all over the body and transmitted to th…
Preformationism
Early microscopists saw a hmunculus in the sperm. "Spermists"…
59 terms
Mendelian Inheritance
Theory of pangenesis
Theory of preformationism
Difference between Spermists and Ovists
Blending theory of inheritance
"seeds" are produced by all parts of the body, collected in t…
people using early microscopes though they saw a miniature hu…
spermists believed characteristics of future person were foun…
factors that control hereditary traits are malleable and can…
Theory of pangenesis
"seeds" are produced by all parts of the body, collected in t…
Theory of preformationism
people using early microscopes though they saw a miniature hu…
7 terms
Mendelian Inheritance
Autosomal Dominant Inheritance
Autosomal Recessive Inheritance
X-linked Dominant
X-linked Recessive
Tends to appear in every generation with phenotypically norma…
Can skip generations, and phenotypically normal parents can p…
Incidence much higher in females. Affected males will pass on…
Incidence much higher in males. Appears to skip through unaff…
Autosomal Dominant Inheritance
Tends to appear in every generation with phenotypically norma…
Autosomal Recessive Inheritance
Can skip generations, and phenotypically normal parents can p…
Mendelian Inheritance
Somatic Cells
Gametes
Autosome
Allosome
Cells that are not gametes, contain 2 copies of each chromoso…
ova and sperm cells, contain one copy of each chromosome (hap…
Any chromosome not considered a sex chromosome (1-22)
(or Gonosome) Sex chromosomes (X&Y)
Somatic Cells
Cells that are not gametes, contain 2 copies of each chromoso…
Gametes
ova and sperm cells, contain one copy of each chromosome (hap…
10 terms
MENDELIAN INHERITANCE
allele
blending hypothesis
particulate hypothesis
character
version of a gene that codes for a specific character
states that characteristics of parents mix like paint in offs…
states that heritable "particles" of parents are shuffled at…
heritable feature that varies between individuals
allele
version of a gene that codes for a specific character
blending hypothesis
states that characteristics of parents mix like paint in offs…
5 terms
Mendelian Inheritance
Probability
Punnett Square
Codominance
Incomplete dominance
The likelihood, or chance, that a given event will occur.
A chart that allows you to easily determine the expected perc…
When both alleles are expressed equally in the phenotype of a…
When the dominant allele isn't completely dominant.
Probability
The likelihood, or chance, that a given event will occur.
Punnett Square
A chart that allows you to easily determine the expected perc…
Mendelian Inheritance
Proband
Consultand
First degree relative
Second degree relative
It is the first person in a family who is treated for a genet…
Basically the person that sort of notifies or brings the cond…
Parents, sibs, and offspring of the proband. Share 50% of the…
Grandparents, grandchildren, uncles , aunts , nieces, nephews…
Proband
It is the first person in a family who is treated for a genet…
Consultand
Basically the person that sort of notifies or brings the cond…
19 terms
Mendelian Inheritance
Homozygous
Heterozygous
Phenotype
Genotype
Having two identical alleles for a particular gene
Having two different alleles for a particular gene
Physical characteristics of an organism
Genetic makeup of an organism
Homozygous
Having two identical alleles for a particular gene
Heterozygous
Having two different alleles for a particular gene
17 terms
Mendelian Inheritance
Pedigree Analysis
Gene Defect
Molecular Diagnosis
Personalized medicine
Mechanisms of inheritance from family history
The etiology of a disease
The disease from patient's tissue/fluid samples
The optimal course of treatment
Pedigree Analysis
Mechanisms of inheritance from family history
Gene Defect
The etiology of a disease
12 terms
Mendelian Inheritance
Character
Trait
Genotype
Phenotype
heritable features of organism that can vary
each variant for a character
genetic make-up of an organism
discernible features of an organism
Character
heritable features of organism that can vary
Trait
each variant for a character
mendelian inheritance
dominance
homozygous
law of independent assortment
purebred
describes the allele that make the phenotypic effect of the o…
describes the genotype of a trait for which the two alleles a…
allele pairs for different genes separate independently in me…
describes organisms that for the given trait the offspring of…
dominance
describes the allele that make the phenotypic effect of the o…
homozygous
describes the genotype of a trait for which the two alleles a…
13 terms
Mendelian Inheritance
laws of heredity by Mendel
autosomal
x linked
characteristics of autosomal dom inher…
heredity determined by factors/units... units come in pairs... un…
inheritance of a gene located on any of the 22 chrom other th…
inheritance of gene located on x chrom
direct transmission from affected parent to affected child... tr…
laws of heredity by Mendel
heredity determined by factors/units... units come in pairs... un…
autosomal
inheritance of a gene located on any of the 22 chrom other th…
Mendelian Inheritance
Simple Mendelian
Incomplete Dominance
Incomplete Penetrance
Overdominance
This term is commonly applied to the inheritance of alleles t…
This pattern occurs when the heterzygote has a phenotype that…
This pattern occurs when a dominant phenotype is not express…
This pattern occurs when the heterozygote has a trait that is…
Simple Mendelian
This term is commonly applied to the inheritance of alleles t…
Incomplete Dominance
This pattern occurs when the heterzygote has a phenotype that…
22 terms
Mendelian Inheritance
Character
Trait
Cross/Hybridization/Mating
True Breeding
a heritable feature
a variant of a character
fertilization is controlled by an outside force
produces organisms with the same trait
Character
a heritable feature
Trait
a variant of a character
22 terms
Mendelian inheritance
Traits
How do we know so much about genetics?
Why did Gregor Mendel choose pea plants?
What 7 traits did Mendel study?
A version of inherited characteristics such as eye color and…
Gregor Mendel performed experiments on pea plant.
Pea plants reproduce quickly and have both male and female.... T…
Seed flower , round vs wrinkled.... Seed flour, purple vs. White…
Traits
A version of inherited characteristics such as eye color and…
How do we know so much about genetics?
Gregor Mendel performed experiments on pea plant.
9 terms
Mendelian Inheritance
parental generation (P generation)
first filial (F1) generation
second filial (F2) generation
Mendel's single-factor cross
a true-breeding line for the variant of the trait being studi…
The offspring of the parental generation
The offspring of the F1 generation
a. Two parental true-breeding lines that differ only for one…
parental generation (P generation)
a true-breeding line for the variant of the trait being studi…
first filial (F1) generation
The offspring of the parental generation
Mendelian Inheritance
codominance
incomplete dominance
polygenic characteristic
probability
A condition in which neither of two alleles of a gene is domi…
A pattern of inheritance in which two alleles, inherited from…
characteristic, or trait, controlled by more than one gene, e…
A number that describes how likely it is that an event will o…
codominance
A condition in which neither of two alleles of a gene is domi…
incomplete dominance
A pattern of inheritance in which two alleles, inherited from…
Mendelian Inheritance
Transmission Genetics
Early theories
Blending Inheritance
Gregor Mendel
Deals w/ the manner in which genetic differences among indivi…
Predicted transmission of acquired characteristics... Hippocrat…
Traits in the offspring resemble the average of those in the…
Made a revolutionary discovery to prove that Blending Inherit…
Transmission Genetics
Deals w/ the manner in which genetic differences among indivi…
Early theories
Predicted transmission of acquired characteristics... Hippocrat…
15 terms
Mendelian inheritance
Proband
Diamond
Dot in the middle
Vertical line through it
The person from whom the pedigree is initiated (P with an arr…
sex unspecified (male is square, female is circle)
obligate carrier
asymptomatic carrier (has gene but may express symptoms later)
Proband
The person from whom the pedigree is initiated (P with an arr…
Diamond
sex unspecified (male is square, female is circle)
7 terms
Mendelian Inheritance
Mendel's Two Laws
Mendellian Sampling
Dominance
Epistasis
1. Segregation... 2. Independent assortment
the random sampling of parental genes caused by segregation a…
an interaction between alleles at a single locus such that in…
an interaction among genes at different loci such that the ex…
Mendel's Two Laws
1. Segregation... 2. Independent assortment
Mendellian Sampling
the random sampling of parental genes caused by segregation a…
Mendelian Inheritance
Mitosis
Explain how mitosis goes down
Meiosis
Explain how meiosis goes down
Cell division in Somatic cells. It occurs during development…
As the cell begins to divide, the 46 chromosomes in the cell…
Cell division in specialized cells in the ovaries and testes.…
During the first division, partner chromosomes come together…
Mitosis
Cell division in Somatic cells. It occurs during development…
Explain how mitosis goes down
As the cell begins to divide, the 46 chromosomes in the cell…
26 terms
MENDELIAN INHERITANCE
common mendelian disorders
PKU- phenylketonuria
symptoms of pku
how to manage PKU
AR- pku, hurler, sickle cell ,CF... AD-neurofibromatosis, achon…
-AR... you are missing the phenylalanine hydroxylase (PAH)... IT I…
phe accumulation in brain, severe intellecutal disabilitlity…
early identification fro newborns... draw blood with heel stick…
common mendelian disorders
AR- pku, hurler, sickle cell ,CF... AD-neurofibromatosis, achon…
PKU- phenylketonuria
-AR... you are missing the phenylalanine hydroxylase (PAH)... IT I…
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