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Genetic Genetic Disorders Disorders Inheritance of Genetic Inheritance of Genetic Traits Traits

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GeneticGenetic DisordersDisordersInheritance of Genetic Inheritance of Genetic

TraitsTraits

Gregor MendelGregor Mendel

18661866

Gregor Mendel Gregor Mendel published the published the results of his results of his investigations of investigations of the ________ of the ________ of "factors" in ____ "factors" in ____ plants.plants.

Rosalind FranklinRosalind Franklin1950's.1950's.Maurice Wilkins Maurice Wilkins (1916- ), Rosalind (1916- ), Rosalind Franklin (1920-Franklin (1920-1957), Francis H. C. 1957), Francis H. C. Crick (1916- ) of Crick (1916- ) of Britain and James Britain and James D. Watson (1928- ) D. Watson (1928- ) of the U.S. Discover of the U.S. Discover ________ ________ of ________ ________ of ___, starting a new ___, starting a new branch of science--branch of science--molecular biology.molecular biology. . .

Watson and CrickWatson and Crick

Watson and Crick Watson and Crick made a _____ of made a _____ of the DNA the DNA molecule and molecule and proved that proved that genes determine genes determine __________________

Arthur KornbergArthur Kornberg

19571957

Arthur Kornberg Arthur Kornberg (1918- ) of the (1918- ) of the U.S. produced U.S. produced ____ in a test ____ in a test _______._______.

Genetic codeGenetic code

19661966The Genetic code The Genetic code was discovered; was discovered; scientists are now scientists are now able to predict able to predict characteristics by characteristics by studying DNA. studying DNA. This leads to This leads to genetic genetic engineering, engineering, genetic genetic counseling. counseling.

Barbara McClintockBarbara McClintock

19831983

Barbara Barbara McClintock (1902-McClintock (1902-1992) of the U.S. 1992) of the U.S. was awarded the was awarded the Nobel Prize for Nobel Prize for her discovery that her discovery that ______ are able to ______ are able to change _______ on change _______ on chromosomes.chromosomes.

DNA FingerprintingDNA Fingerprinting

The late 1980's.The late 1980's.An international An international team of scientists team of scientists began the project began the project to map the to map the human genome.human genome.The first crime The first crime conviction based conviction based on DNA on DNA fingerprinting, in fingerprinting, in Portland Oregon.Portland Oregon.

Gene TherapyGene Therapy

1990.1990.

Gene therapy Gene therapy was used on was used on patients for the patients for the first time.first time.

Dr. Kary MullisDr. Kary Mullis

19931993

Dr. Kary Mullis Dr. Kary Mullis discovered the discovered the ___(Polymerase ___(Polymerase chain reaction) chain reaction) procedure, for procedure, for which he was which he was awarded the awarded the Nobel prizeNobel prize..

                           

DNA TestingDNA Testing

1995.1995.

DNA testing in DNA testing in forensics cases forensics cases gains fame in the gains fame in the O.J. Simpson O.J. Simpson trial.trial.                            

Cloning BeginsCloning Begins

1997.1997.

Dolly the sheep - Dolly the sheep - the first adult the first adult animal cloned on animal cloned on July 5 1996.July 5 1996.

                                     

Human Genome ProjectHuman Genome Project

Imagine a world in which we will Imagine a world in which we will be able to treat diseases by be able to treat diseases by altering our very genesaltering our very genes

This will give us new ones if ours This will give us new ones if ours are non-functionalare non-functional

Changing bad genes for good Changing bad genes for good ones. ones.

Human Genome ProjectHuman Genome Project

For the first time in our For the first time in our existence, we are closer to existence, we are closer to understanding just what we are. understanding just what we are.

We now have the tools to make We now have the tools to make the whole world better through the whole world better through science the science of the human science the science of the human genome.genome.

Genetic DisordersGenetic Disorders

MutationsMutations

Well what are mutations?Well what are mutations?– Gene mutations can be either Gene mutations can be either

_______ from a parent or ________. _______ from a parent or ________. – A hereditaryA hereditary mutation is a ______ mutation is a ______

that is present in the DNA of that is present in the DNA of virtually ____ body cells. virtually ____ body cells.

MutationsMutations

Hereditary mutations are also called Hereditary mutations are also called ______ ____________ ______ mutations mutations – This is because the gene change exists This is because the gene change exists

in the reproductive cells and can be in the reproductive cells and can be passed from generation to generation, passed from generation to generation, from parent to newborn. from parent to newborn.

Moreover, the mutation is copied Moreover, the mutation is copied every time body cells divideevery time body cells divide

But first, NondisjunctionBut first, Nondisjunction

What is non-disjunction?What is non-disjunction?– This is when the chromosomes ________ This is when the chromosomes ________

separate properly during meiosisseparate properly during meiosis

Down’s Syndrome – Trisomy Down’s Syndrome – Trisomy 2121

Caused by ________________ of the Caused by ________________ of the _______ chromosome._______ chromosome.

This means that the individual has a ______ This means that the individual has a ______ (3 – 2lst chromosomes).(3 – 2lst chromosomes).

What does tri mean?What does tri mean?– It means _______ (ex., tricycle)It means _______ (ex., tricycle)

What about somy?What about somy?– It means ______It means ______

Karyotype of Down’s SyndromeKaryotype of Down’s Syndromeor Trisomy 21or Trisomy 21

Symptoms of Down Symptoms of Down SyndromeSyndrome

Upward slant to eyes.Upward slant to eyes.

Small ears that fold over at the top.Small ears that fold over at the top.

Small, flattened nose.Small, flattened nose.

Small mouth, making tongue appear large.Small mouth, making tongue appear large.

Short neck.Short neck.

Small hands with short fingers.Small hands with short fingers.

Symptoms of Down Symptoms of Down SyndromeSyndrome

Low muscle tone.Low muscle tone.Single deep crease across center of palm.Single deep crease across center of palm.Looseness of joints.Looseness of joints.Small skin folds at the inner corners of the Small skin folds at the inner corners of the eyes.eyes.Excessive space between first and second Excessive space between first and second toe.toe.In addition, down syndrome always involves In addition, down syndrome always involves some degree of mental retardation, from some degree of mental retardation, from mild to severe. In most cases, the mental mild to severe. In most cases, the mental retardation is mild to moderate.retardation is mild to moderate.

Kleinfelter’s syndrome – Kleinfelter’s syndrome – What is that?What is that?

Disorder occurring due to Disorder occurring due to __________ of the __ chromosome.__________ of the __ chromosome.

The Sperm containing both __ The Sperm containing both __ and__ combines with an egg and__ combines with an egg containing the __, results in a containing the __, results in a ____ child. ____ child.

The egg may contribute the The egg may contribute the extra X chromosome.extra X chromosome.

XXY - SymptomsXXY - Symptoms

Males with some development of Males with some development of breast tissue normally seen in breast tissue normally seen in females.females.

Little body hair is present, and such Little body hair is present, and such person are typically tall, have small person are typically tall, have small testes.testes.

Infertility results from absent sperm.Infertility results from absent sperm.

Evidence of mental retardationEvidence of mental retardation may may or may not be present.or may not be present.

XXY - KaryotypeXXY - Karyotype

Klinefleter’s Klinefleter’s SyndromeSyndrome

Turner’s SyndromeTurner’s Syndrome

The cause of the disease is The cause of the disease is ____________ during meiosis____________ during meiosis

The result is said to be __________The result is said to be __________

What does that mean?What does that mean?– It means it only has _____ of a pair of It means it only has _____ of a pair of

chromosomeschromosomes

Turner’s SyndromeTurner’s SyndromeTurner syndrome is associated with Turner syndrome is associated with underdeveloped ovaries, short stature, underdeveloped ovaries, short stature, webbed, and is only in women.webbed, and is only in women.

Bull neck, and broad chest. Individuals Bull neck, and broad chest. Individuals are sterile, and lack expected are sterile, and lack expected secondary sexual characteristics.secondary sexual characteristics.– Body hair, size, skin texture, voice changeBody hair, size, skin texture, voice change

Turner’s SyndromeTurner’s Syndrome

Mental retardation Mental retardation typically not evident.typically not evident.

Turner syndrome does not Turner syndrome does not typically cause mental typically cause mental retardation or impair retardation or impair cognition. cognition.

However, learning However, learning difficulties are common difficulties are common amongamong

Turner’s SyndromeTurner’s Syndrome

Sickle Cell AnemiaSickle Cell Anemia

An ________, chronic disease in which An ________, chronic disease in which the ____ blood cells, normally disc-the ____ blood cells, normally disc-shaped, become ______ shaped.shaped, become ______ shaped.

As a result, they function abnormally and As a result, they function abnormally and cause small ______ ______. cause small ______ ______.

These clots give rise to recurrent painful These clots give rise to recurrent painful episodes called "sickle cell pain crises". episodes called "sickle cell pain crises".

Sickle Cell AnemiaSickle Cell Anemia

Sickle Cell AnemiaSickle Cell Anemia

Sickle cell disease is most Sickle cell disease is most commonly found in African commonly found in African American populations.  American populations. 

Why?Why?

This disease was discovered over This disease was discovered over 80 years ago, but has not been 80 years ago, but has not been given the attention it deserves.given the attention it deserves.

Cystic Fibrosis (CF)Cystic Fibrosis (CF)

MonogenicMonogenic

Cause: deletion of only __ Cause: deletion of only __ bases on chromosome ___bases on chromosome ___

Cystic Fibrosis (CF)Cystic Fibrosis (CF)

Fluid in lungs, potential respiratory Fluid in lungs, potential respiratory failure (pulmonary edema)failure (pulmonary edema)

Common among Caucasians…1 in 20 Common among Caucasians…1 in 20 individuals are carriers in the individuals are carriers in the populationpopulation– Therefore is it dominant or recessive?Therefore is it dominant or recessive?

It is actually recessiveIt is actually recessive

Tay-Sachs diseaseTay-Sachs disease

Monogenic, ________ recessiveMonogenic, ________ recessive– What does monogenic mean?What does monogenic mean?

It means that it is controlled by It means that it is controlled by only one geneonly one gene

Tay-Sachs diseaseTay-Sachs disease

Central nervous system Central nervous system degrades, ultimately causing degrades, ultimately causing death.death.

Most common among people of Most common among people of Jewish, eastern Europe descent.Jewish, eastern Europe descent.

Muscular DystrophyMuscular Dystrophy

What Is Muscular Dystrophy?What Is Muscular Dystrophy?Muscular dystrophyMuscular dystrophy – it is a disease in which the ______ of the it is a disease in which the ______ of the

body get weaker and weaker body get weaker and weaker – slowly stop working because of a lack of slowly stop working because of a lack of

a certain proteina certain protein

Muscular DystrophyMuscular Dystrophy

Can be passed on by one or Can be passed on by one or both parents, depending on both parents, depending on the form of MD the form of MD

There is autosomal dominant There is autosomal dominant and recessive typesand recessive types

Hemophilia, the royal Hemophilia, the royal diseasedisease

Hemophilia is the oldest known Hemophilia is the oldest known hereditary ________ disorder.hereditary ________ disorder.

Caused by a recessive gene on the X Caused by a recessive gene on the X chromosome.chromosome.

One can bleed to death with small One can bleed to death with small cuts.cuts.

Hemophilia, the royal Hemophilia, the royal diseasedisease

The severity of hemophilia is related The severity of hemophilia is related to the amount of the clotting factor to the amount of the clotting factor in the blood. in the blood.

About 70% of hemophilia patients About 70% of hemophilia patients have less than one percent of the have less than one percent of the normal amount normal amount

Thus, they have severe hemophiliaThus, they have severe hemophilia

X-linked Inheritance pedigree X-linked Inheritance pedigree chartchart

Huntington’s DiseaseHuntington’s Disease

Huntington's disease (HD) is an Huntington's disease (HD) is an inherited, degenerative ______ disorder inherited, degenerative ______ disorder which results in an eventual loss of which results in an eventual loss of both mental and physical control. both mental and physical control.

The disease is also known as The disease is also known as Huntington's chorea. Huntington's chorea.

Chorea means "dance-like movements" Chorea means "dance-like movements" and refers to the uncontrolled motions and refers to the uncontrolled motions often associated with the disease. often associated with the disease.

Phenylketonuria Phenylketonuria or PKUor PKU

People with PKU cannot consume any People with PKU cannot consume any product that contains ___________.product that contains ___________.

PKU is a _________ disorder that results when PKU is a _________ disorder that results when the PKU gene is inherited from both the PKU gene is inherited from both parents (recessive or dominant? parents (recessive or dominant? Monogenic or chromosomal?) Monogenic or chromosomal?)

Caused by a deficiency of an ________ which Caused by a deficiency of an ________ which is necessary for proper metabolism of an is necessary for proper metabolism of an amino acid called phenylalanine. amino acid called phenylalanine.

PKUPKUPhenylalanine is an essential amino Phenylalanine is an essential amino acid and is found in nearly all foods acid and is found in nearly all foods which contain protein, dairy which contain protein, dairy products, nuts, beans, tofu… etc.products, nuts, beans, tofu… etc.A low protein diet must be followed. A low protein diet must be followed. Brain damage can result if the diet Brain damage can result if the diet is not followed causing mental is not followed causing mental retardation…and mousy body odor retardation…and mousy body odor (phenylacetic acid is in sweat).(phenylacetic acid is in sweat).

PKUPKU

Phenylalanine. Phenylalanine. Free dietFree diet

Color BlindnessColor Blindness

Cause: ____________ recessiveCause: ____________ recessive1/10 males have, 1/100 females 1/10 males have, 1/100 females have. Why the difference?have. Why the difference?Individuals are unable to Individuals are unable to distinguish shades of red-green.distinguish shades of red-green.Are you color blind?Are you color blind?

                             

             

AlbinismAlbinismPatients are unable to produce skin Patients are unable to produce skin or eye pigments, and thus are light-or eye pigments, and thus are light-sensitivesensitive

Autosomal recessiveAutosomal recessive– Therefore, is it monogenic or Therefore, is it monogenic or

chromosomal?chromosomal?

The very tragic disease…The very tragic disease…hairy earshairy ears

Y-linked trait, which Y-linked trait, which are rareare rare

symptoms…hairy symptoms…hairy earsears

Only 1 cure Only 1 cure known….known….