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Booster Cheat Sheets - 8) Heredity

The document provides an overview of key genetic concepts, including definitions of terms such as gene, allele, and genotype, as well as Mendel's Laws of Inheritance. It explains various patterns of inheritance, including autosomal dominant and recessive traits, sex-linked traits, and genetic disorders. Additionally, it discusses the implications of genetic variations, such as penetrance and expressivity, and outlines the effects of chromosomal aberrations.

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Fatemeh tamizkar
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0% found this document useful (0 votes)
43 views2 pages

Booster Cheat Sheets - 8) Heredity

The document provides an overview of key genetic concepts, including definitions of terms such as gene, allele, and genotype, as well as Mendel's Laws of Inheritance. It explains various patterns of inheritance, including autosomal dominant and recessive traits, sex-linked traits, and genetic disorders. Additionally, it discusses the implications of genetic variations, such as penetrance and expressivity, and outlines the effects of chromosomal aberrations.

Uploaded by

Fatemeh tamizkar
Copyright
© © All Rights Reserved
We take content rights seriously. If you suspect this is your content, claim it here.
Available Formats
Download as PDF, TXT or read online on Scribd
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Booster Prep Booster Cheat Sheets™– Heredity (1/2) © Copyright 2024, Booster Prep Inc.

All Rights Reserved.

Key Terms
Locus for flower color gene
Gene: A basic unit or sequence of genetic material Phenotype: The set of observable Hemizygous: Having only one copy of a gene Homozygous: Carrying the same alleles on each
that encodes a trait characteristics in an individual resulting from instead of two (e.g., sex chromosomes of males homologous chromosome
the expression of genotype (e.g., Genotype Aa are XY)
Locus: A gene's location within a genome Allele for • Homozygous Dominant
white flowers can produce a brown eye phenotype while B B b b
Allele: A variant form of a gene carries two copies of the
Allele for genotype aa can produce a blue eye phenotype) Heterozygous: Carrying a copy of the recessive dominant allele (e.g., BB)
• Wild type: Normal version of an allele purple allele on one of the homologous chromosomes
flowers
• Mutant: An allele with an altered DNA sequence Homologous chromosomes: A pair of and a copy of the dominant allele on the other • Homozygous Recessive
affecting a gene's phenotype chromosomes (1 maternal, 1 paternal) that chromosome (e.g., Aa) carries two copies of the
Genotype: The alleles an individual carries (e.g., Aa) contain the same genes in the same locations recessive allele (e.g., bb)
Homologous pair of chromosomes

Mendel's Laws of Inheritance Punnett Squares & Test Crosses

The Law of Segregation Test Cross: A genetic cross between a homozygous recessive Punnett squares show all possible allelic
Segregation
Pairs of alleles are separated individual and an individual in question to determine the latter's combinations of gametes in a cross between
During Anaphase 1, homologous when gametes are formed genotype for a given trait two individuals with known genotypes
chromosomes segregate, Tt or F1 hybrid Double recessive
resulting in haploid gametes that • Monohybrid cross tests a parent Gametes from RrYy parent
contain only one allele per gene single gene RY Ry rY ry

RRYy RrYY R r Yy
The Law of Independent
Independent Assortment • Dihybrid cross tests two RRYY
Pairs of alleles will be sorted
Assortment independently of one another
different genes RY
simultaneously Tt tt
when gametes are formed

Gametes from RrYy parent


The lining up & separation of one RRYy RRyy R r Yy Rryy
pair of homologous chromosomes • Test cross generations: T t t t
Ry
does not influence that of a P1 (parental), F1 (1st
different pair of homologous generation of offspring),
chromosomes F2 (2nd generation of RrYY R r Yy rrYY rrYy
offspring) rY
Principle of Dominance
The Law of Dominance One dominant allele masks
effect of recessive allele R r Yy Rryy rrYy rryy

A dominant allele masks the Tt Tt tt tt ry


effect of a recessive allele Tall Dwarf

Patterns of Inheritance
Blond Red
Epistasis: One gene affects Multiple Alleles: More Polygenic Inheritance: Many genes Pleiotropy: Single gene controls for the Incomplete Dominance: There is a
the phenotypic expression than two typical alleles interact to shape a single phenotype, expression of multiple phenotypic traits (e.g., a blending of alleles, producing a x =
of an independently exist for a gene (e.g., A, B, often with continuous variation (e.g., single gene controls a plant’s height, color, and unique heterozygous phenotype
inherited gene (e.g., O alleles in the ABO height) texture) Plant height [e.g., (R red) x (W White) = (RW pink)]
Blond hair Red hair Gene A
baldness: 1st gene controls human blood type system) Codominance: both alleles are
whether one is bald or not, Gene B Trait Plant colour
Baldness
completely expressed x =
and the 2nd controls the gene
Gene C Plant texture
[e.g., (R Red) x (W White) = (RW Red
hair color) Single gene
Bald Bald & White speckled)]
Booster Prep Booster Cheat Sheets™– Heredity (2/2) © Copyright 2024, Booster Prep Inc.
All Rights Reserved.

Phenotypic Expression Human Genetic Defects

Sex-linked genes reside on a sex chromosome X-inactivation: During embryonic Aneuploidy: The occurrence of an abnormal number Nondisjunction: The failure of chromosomes or chromatids to
development in female mammals, one of (extra/missing) of chromosomes that is often caused by separate during Mitosis/Meiosis; can result in gametes with too
Sex-influenced genes can be affected by the sex of the individual
the two X chromosomes is inactivated, nondisjunction many or too few chromosomes
carrying the trait (e.g., a male and female may carry the same
forming a highly condensed chromosome
genes for hair, but a male will be bald while the female is not) • Trisomy 21 (Down syndrome): Having three copies of Non-disjunction Non-disjunction
(Barr body) chromosome 21 instead of the normal two copies in Meiosis I in Meiosis II
Linkage map uses recombination frequency to show the relative
positions of genes on a chromosome Phenotype Variability

BEFORE
• PRO-TIP: The closer together the genes are, the less likely Penetrance: The proportion of individuals
they are to be separated by recombination Monosomy Trisomy
with a specific genotype will express the Extra
Linked genes reside close together on a chromosome, making corresponding phenotype Missing
chromosome chromosome
them less likely to be separated by recombination during meiosis,
Expressivity: The variation of a phenotype
and more likely to be inherited together for a specific genotype

MEIOSIS I
A B C D Gene 1
Gene 1 Gene 1
15% 28% 7%
Gene 2 Gene 2 Gene 2
50%

MEIOSIS II
Linked Not linked Not linked

Inheritance Patterns of Genetic Disorders


Linked

Autosomal dominant: A single copy


Autosomal dominant Autosomal recessive
of the mutated gene is enough to 2n – 1 = 45 2n + 1 = 47

GAMETES
express the condition

Autosomal recessive: Two copies of Aneuploid


n+1 n+1 n-1 n-1 n+1 n-1 n n
the mutated gene must be present to
express the condition
Colchicine arrests mitosis by interfering with mitotic spindle formation; it can prevent cells from replicating and has anticancer effects
• Cannot skip generations • Can skip generations
X-linked dominant: A single copy of • Affects males and females equally • Affects males and females equally Proto-oncogenes stimulate normal growth; if mutated become oncogenes (cancer-causing genes)
the mutation of a gene on the X • Two (heterozygous) affected parents can have • Two (heterozygous) unaffected parents can

chromosome is enough to cause the


unaffected offspring have affected offspring Tumor suppressor genes make proteins that help control cell growth; if mutated may lead to cancer
condition in both males & females X-linked dominant X-linked recessive
Chromosomal aberrations: Changes in chromosome number or structure
X-linked recessive: Two copies of the
Inversions Deletions Translocation Duplication
mutated gene on the X chromosomes
causes the condition in females; one 1 A chromosome 2 A chromosome 3 A chromosome 4 A chromosome
copy will cause the condition in males segment is segment is segment is moved segment is
rearranged in missing or to another; it can be repeated on the
Y-linked: Genes located on the Y the reverse of deleted reciprocal or same
chromosome cause the • Cannot skip generations • Can skip generations its original nonreciprocal chromosome
condition/trait • Affects males and females equally • Affects males more commonly than females orientation 20 20 (substitution)
• Affected fathers always have affected • Affected mothers always have affected sons
daughters • Normal fathers never have affected daughters 4
4 4 4 4
4 4 4

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