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Chapter 4 Human Heredity by Michael Cummings ©2006 Brooks/Cole-Thomson Learning For each of these conditions, mutant allele is dominant over wild type allele

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Page 1: For each of these conditions, mutant allele is dominant Powerpoints/chapter… · For each of these conditions, mutant allele is dominant over wild type allele. Chapter 4 Human Heredity

Chapter 4 Human Heredity by Michael Cummings ©2006 Brooks/Cole-Thomson LearningFor each of these conditions, mutant allele is dominant over wild type allele

Page 2: For each of these conditions, mutant allele is dominant Powerpoints/chapter… · For each of these conditions, mutant allele is dominant over wild type allele. Chapter 4 Human Heredity

Chapter 4 Human Heredity by Michael Cummings ©2006 Brooks/Cole-Thomson Learning

Marfan Syndrome Is an AutosomalDominant Trait

• Affects skeletal system,eyes, and cardiovascularsystem

• Characteristics – tall, thinarms and legs with long,thin fingers and toes

• Weakened aorta mayenlarge and rupture

Fig. 4.13

Page 3: For each of these conditions, mutant allele is dominant Powerpoints/chapter… · For each of these conditions, mutant allele is dominant over wild type allele. Chapter 4 Human Heredity

Chapter 4 Human Heredity by Michael Cummings ©2006 Brooks/Cole-Thomson Learning

Marfan Syndrome May Affect the Aorta

Gene is located on chromosome 15 = fibrillinFig. 4.14

Page 4: For each of these conditions, mutant allele is dominant Powerpoints/chapter… · For each of these conditions, mutant allele is dominant over wild type allele. Chapter 4 Human Heredity

Chapter 4 Human Heredity by Michael Cummings ©2006 Brooks/Cole-Thomson Learning

Consanguineous mating

Huntington’sRare dominant trait

Page 5: For each of these conditions, mutant allele is dominant Powerpoints/chapter… · For each of these conditions, mutant allele is dominant over wild type allele. Chapter 4 Human Heredity

Chapter 4 Human Heredity by Michael Cummings ©2006 Brooks/Cole-Thomson Learning

Pedigree - Woody Guthrie

Page 6: For each of these conditions, mutant allele is dominant Powerpoints/chapter… · For each of these conditions, mutant allele is dominant over wild type allele. Chapter 4 Human Heredity

Chapter 4 Human Heredity by Michael Cummings ©2006 Brooks/Cole-Thomson Learning

Huntington’s disease-affected brains

Page 7: For each of these conditions, mutant allele is dominant Powerpoints/chapter… · For each of these conditions, mutant allele is dominant over wild type allele. Chapter 4 Human Heredity

Chapter 4 Human Heredity by Michael Cummings ©2006 Brooks/Cole-Thomson Learning

Nancy Wexler

Page 8: For each of these conditions, mutant allele is dominant Powerpoints/chapter… · For each of these conditions, mutant allele is dominant over wild type allele. Chapter 4 Human Heredity

Chapter 4 Human Heredity by Michael Cummings ©2006 Brooks/Cole-Thomson Learning

The number of CAG repeats in huntingtin gene (htt)is directly correlated with probability of disease

polyQ (glutamine)

Page 9: For each of these conditions, mutant allele is dominant Powerpoints/chapter… · For each of these conditions, mutant allele is dominant over wild type allele. Chapter 4 Human Heredity

Chapter 4 Human Heredity by Michael Cummings ©2006 Brooks/Cole-Thomson Learning

http://www.birf.info/art/people/media-stories/nd5.gif

Pathology of Huntington’s disease

Page 10: For each of these conditions, mutant allele is dominant Powerpoints/chapter… · For each of these conditions, mutant allele is dominant over wild type allele. Chapter 4 Human Heredity

Chapter 4 Human Heredity by Michael Cummings ©2006 Brooks/Cole-Thomson LearningFigure 4.16

Pedigree 1 Pedigree 2

Page 11: For each of these conditions, mutant allele is dominant Powerpoints/chapter… · For each of these conditions, mutant allele is dominant over wild type allele. Chapter 4 Human Heredity

Chapter 4 Human Heredity by Michael Cummings ©2006 Brooks/Cole-Thomson Learning

Examples of Patterns of Inheritance

• Autosomal Recessive

• Autosomal Dominant

• X-Linked Dominant

• X-Linked Recessive

• Y-Linked Inheritance

• Mitochondrial Inheritance

Page 12: For each of these conditions, mutant allele is dominant Powerpoints/chapter… · For each of these conditions, mutant allele is dominant over wild type allele. Chapter 4 Human Heredity

Chapter 4 Human Heredity by Michael Cummings ©2006 Brooks/Cole-Thomson Learning

Transmission of X and Y Chromosomes

Fig. 4.16

Page 13: For each of these conditions, mutant allele is dominant Powerpoints/chapter… · For each of these conditions, mutant allele is dominant over wild type allele. Chapter 4 Human Heredity

Chapter 4 Human Heredity by Michael Cummings ©2006 Brooks/Cole-Thomson Learning

X and Y Chromosomes

• Females carry two copies of the Xchromosome and may be homozygous orheterozygous for a given trait

• Males carry only one X chromosome andare hemizygous for all genes on the Xchromosome

• A male receives his Y chromosome fromhis father and his X from his mother

Page 14: For each of these conditions, mutant allele is dominant Powerpoints/chapter… · For each of these conditions, mutant allele is dominant over wild type allele. Chapter 4 Human Heredity

Chapter 4 Human Heredity by Michael Cummings ©2006 Brooks/Cole-Thomson Learning

X-linked Dominant Traits

• Affected males produce all affecteddaughters but no affected sons

• (Criss-cross inheritance)

• Heterozygous females will have unaffectedand affected offspring; sons anddaughters will be equally affected

Page 15: For each of these conditions, mutant allele is dominant Powerpoints/chapter… · For each of these conditions, mutant allele is dominant over wild type allele. Chapter 4 Human Heredity

Chapter 4 Human Heredity by Michael Cummings ©2006 Brooks/Cole-Thomson Learning

HypophosphatemiaIs an X-linked Dominant Trait

Fig. 4.17

Page 16: For each of these conditions, mutant allele is dominant Powerpoints/chapter… · For each of these conditions, mutant allele is dominant over wild type allele. Chapter 4 Human Heredity

Chapter 4 Human Heredity by Michael Cummings ©2006 Brooks/Cole-Thomson Learning

X-Linked Recessive

• Hemizygous males and homozygousfemales are affected

• Males are more likely to be affected• Affected males receive the allele from

their mothers• Daughters must receive the allele from

both parents

Page 17: For each of these conditions, mutant allele is dominant Powerpoints/chapter… · For each of these conditions, mutant allele is dominant over wild type allele. Chapter 4 Human Heredity

Chapter 4 Human Heredity by Michael Cummings ©2006 Brooks/Cole-Thomson Learning

Pedigree for X-Linked Recessive Trait

Fig. 4.18

Page 18: For each of these conditions, mutant allele is dominant Powerpoints/chapter… · For each of these conditions, mutant allele is dominant over wild type allele. Chapter 4 Human Heredity

Chapter 4 Human Heredity by Michael Cummings ©2006 Brooks/Cole-Thomson Learning

Colorblindness

• Most common form of color blindness isred-green blindness

• 8% male population of US• Red blindness – unable to see red as a

distinct color• Green blindness – cannot see green or

other colors in the middle of the visualspectrum

• Rare form is an autosomal dominant traiton chromosome 7- blue blindness

Page 19: For each of these conditions, mutant allele is dominant Powerpoints/chapter… · For each of these conditions, mutant allele is dominant over wild type allele. Chapter 4 Human Heredity

Chapter 4 Human Heredity by Michael Cummings ©2006 Brooks/Cole-Thomson Learning

Ishihara plate test for colorblindness

Page 20: For each of these conditions, mutant allele is dominant Powerpoints/chapter… · For each of these conditions, mutant allele is dominant over wild type allele. Chapter 4 Human Heredity

Chapter 4 Human Heredity by Michael Cummings ©2006 Brooks/Cole-Thomson Learning

Defects in the ConesCause Color Blindness

Fig. 4. 21

Page 21: For each of these conditions, mutant allele is dominant Powerpoints/chapter… · For each of these conditions, mutant allele is dominant over wild type allele. Chapter 4 Human Heredity

Chapter 4 Human Heredity by Michael Cummings ©2006 Brooks/Cole-Thomson Learning

http://home.comcast.net/~john.kimball1/BiologyPages/R/Red-greenGenes.gif

Red-green opsin genes

Page 22: For each of these conditions, mutant allele is dominant Powerpoints/chapter… · For each of these conditions, mutant allele is dominant over wild type allele. Chapter 4 Human Heredity

Chapter 4 Human Heredity by Michael Cummings ©2006 Brooks/Cole-Thomson Learning

Muscular Dystrophy

•Progressive weakness and loss of muscletissue

•Autosomal and X-linked forms

•Most common form is an X-linkedrecessive Duchenne musculardystrophy

•1/3500 males in U.S.

•Disease progresses rapidly

Page 23: For each of these conditions, mutant allele is dominant Powerpoints/chapter… · For each of these conditions, mutant allele is dominant over wild type allele. Chapter 4 Human Heredity

Chapter 4 Human Heredity by Michael Cummings ©2006 Brooks/Cole-Thomson Learning

Duchenne Muscular Dystrophy

• Gene located near end of Xchromosome

• Encodes for dystrophin

• Stabilizes cell membraneduring the stress of musclecontraction

• Several mutations withvariation in phenotype

• Characteristic movementsFig 4.22

Page 24: For each of these conditions, mutant allele is dominant Powerpoints/chapter… · For each of these conditions, mutant allele is dominant over wild type allele. Chapter 4 Human Heredity

Chapter 4 Human Heredity by Michael Cummings ©2006 Brooks/Cole-Thomson Learning

Hemophilia and History


Suprabasal expression of a dominant- negative RXRc mutant

Theoretical Genetics Topic 4.3. Assessment Statements 4.3.1 Define genotype, phenotype, dominant allele, recessive allele, codominant alleles, locus,

Chromatin in a Normal Cell (one length from each parent) Allele Allele A version of a gene Dominant Dominant Allele that may mask the presence of

A = dominant allele for albinism a = recessive allele for fewer pigments/albinism What is the probability of the offspring developing albinism?

Characterization of the Dominant Mutant Amylose-Extender (Aral

Theoretical Genetics 4.3. 4.3.1 Define genotype, phenotype, dominant allele, recessive allele, recessive allele, codominant alleles, locus, homozygous,

Positive selection A new allele (mutant) confers some increase in the fitness of the organism Selection acts to favour this allele Also called adaptive

Allele Expression Allele expression not always as simple as dominant alleles overriding recessive ones. Alleles of a single gene may interact together

 · Web viewDeletion of the dominant mutant allele would leave one normal allele intact, which is sufficient for normal function and prevent the onset of the disease. Therefore, they

Selective targeting of an oncogenic KRAS mutant allele by ... · 30 delivery of as9 system. Sp as9 and das9-KRA systems with sgRNA targeting the mutant allele 31 both blocked the

Genetics · 5/12/2014  · Dominant vs. Recessive •A dominant allele is one that whose phenotype will ALWAYS be expressed if you have the dominant allele. (shown as a CAPITAL LETTER)

Theoretical Genetics Gregor Mendel. Objectives 4.3.1 – Define dominant allele, recessive allele, codominant alleles, locus,homozygous, heterozygous, genotype,

Not-so-Simple Inheritance Patterns - WordPress.com · Inheritance • 2 alleles • 2 phenotypes • One allele is dominant • The other allele is recessive • The DOMINANT allele

“ Dominant-Negative ALK2 Allele Associates with Congenital Heart Defects ” [Smith et. al, 2009]

Genetics Vocabulary Group 1 Heredity Trait Allele Locus Characteristic Dominant Recessive

There is no dominant allele, There is no recessive allele. Both alleles “blend” to result in a third phenotype

Final Concepts for Chapter 11 Mendelian Genetics Allele Allele Dominant Dominant Recessive Recessive P-generation P-generation F1 generation F1 generation

Genetics and Heredity Mr. Gagnon. Key Terms: Traits Heredity Genetics Purebred Genes Alleles Recessive Allele Dominant Allele Hybrids

Mendel and the Gene Idea · Dominant vs. Recessive Alleles • The third concept is that if the two alleles at a locus differ, then: • One allele (the dominant allele) determines

Genetics. Incomplete Dominance Where neither the dominant or recessive allele is truly dominant over the other, both are dominant

A dominant negative G alpha s mutant is rescued by secondary

Non-Mendelian Genetics. Mendelian Genetics: Dominant & Recessive Review One allele is DOMINANT over the other (because the dominant allele can “mask”

Fisher – Kolmogorov – Petrovsky – Piskunov EquationFisher-KPP Equation: Mathematical Basis to Gene Diffusion p – frequency of mutant allele q – frequency of parent allele

Mutant‑allele fraction heterogeneity is associated with

Complex Inheritance. Mendelian Genetics Mendel dealt with simple inheritance…dominant vs. recessive Dominant traits only require one dominant allele to

Incomplete Dominance, Codominance, and ABO … Dominance Sometimes neither allele is fully dominant over the other Incomplete Dominance: neither allele is dominant but combine and

Mutant Allele-Specific Uncoupling of PENETRATION3 Functions … · pen3-5 allele associated with a single-amino acid sub-stitution. The mutant protein, unlike most previously isolated

Incompletely Dominant Allele When two different alleles are both dominant over another allele, but not dominant over each other. An example is a cross

4.3 T HEORETICAL G ENETICS. A SSESSMENT S TATEMENTS Define genotype, phenotype, dominant allele, recessive allele, codominant allele, locus, homozygous,

GENETICS VOCABULARY QUIZ 2 · GENETICS VOCABULARY QUIZ 2 Allele Dominant Allele Recessive Allele Phenotype Genotype Heterozygous/Hybrid Homozygous/Purbred 1. 2 Allele Allele- one

Lecture 5-6: Mutant Characterization Dominant and ...Lecture 5-6: Mutant Characterization Dominant and recessive mutations Complementation tests Biochemical pathways Epistasis analyses

CANCER THERAPEUTICS Allele-specific inhibitors inactivate ... · Allele-specific inhibitors inactivate mutant KRAS G12C bya trapping mechanism Piro Lito,1* Martha Solomon,2 Lian-Sheng

Mendel explained how a dominant allele can mask the ... · Mendel explained how a dominant allele can mask the presence of a recessive allele. Section 2: Mendelian Genetics K What

4.3 Theoretical genetics. 4.3 Theoretical genetics: Objectives 1- Define genotype, phenotype, dominant allele, recessive allele, codominant alleles, locus,

Mendel explained how a dominant allele can mask …ddamm.weebly.com/uploads/1/3/9/8/13981972/bio_10.2_medelian... · Mendel explained how a dominant allele can mask the ... • Gregor