Genetic Genetic Disorders, Blood Disorders, Blood

Typing, and Typing, and Genetic Genetic

EngineeringEngineering

Genetic DisorderGenetic DisorderIs an abnormal condition that a person Is an abnormal condition that a person inherits through genes and inherits through genes and chromosomeschromosomes

Two causes:Two causes:Mutations in DNAMutations in DNA

Changes in overall structure or numbers of Changes in overall structure or numbers of chromosomeschromosomes

Prenatal Prenatal DiagnosisDiagnosis

AmniocentesisAmniocentesisA small sample of the amniotic fluid A small sample of the amniotic fluid surrounding the baby is removed using surrounding the baby is removed using a syringe. a syringe.

The fluid contains skin cells from the The fluid contains skin cells from the baby.baby.

The skin cells are grown in the lab.The skin cells are grown in the lab.

The chromosomes from the cells are The chromosomes from the cells are magnified under a microscope and a magnified under a microscope and a picture is taken.picture is taken.

The chromosomes are cut out and The chromosomes are cut out and arranged in homologous pairs in arranged in homologous pairs in decreasing size order.decreasing size order.

This is called a karyotype.This is called a karyotype.

Down Syndrome Down Syndrome (Trisomy 21)(Trisomy 21)

Extra chromosome 21 in Extra chromosome 21 in

every cell of the bodyevery cell of the body

Causes mental retardation, heart defectsCauses mental retardation, heart defects

As a woman gets older, her chances of As a woman gets older, her chances of having a baby with a chromosome having a baby with a chromosome abnormality increases abnormality increases

***remember, a woman is born with all of her ***remember, a woman is born with all of her egg cells, but meiosis is not yet completeegg cells, but meiosis is not yet complete

(egg development stops in prophase I until (egg development stops in prophase I until the follicle matures prior to ovulation)the follicle matures prior to ovulation)

Turner Syndrome Turner Syndrome female born with only one X female born with only one X

chromosomechromosome

CharacteristicsCharacteristics

short statureshort stature

ovaries do not develop (infertile)ovaries do not develop (infertile)

cardiovascular problems cardiovascular problems

kidney and thyroid problems kidney and thyroid problems

skeletal disorders such as scoliosisskeletal disorders such as scoliosis

Klinefelter SyndromeKlinefelter Syndrome47,XXY47,XXY

CharacteristicsCharacteristics

Infertility (cannot produce a lot of Infertility (cannot produce a lot of sperm)sperm)

Abnormal body proportions (long legs, Abnormal body proportions (long legs, short trunk, shoulder equal to hip size)short trunk, shoulder equal to hip size)

Abnormally large breasts (Abnormally large breasts (gynecomastia)

Cystic FibrosisCystic FibrosisGenetic disorder in which the body Genetic disorder in which the body produces abnormally thick mucus in the produces abnormally thick mucus in the lungs and intestineslungs and intestines

Caused by a recessive allele that is a Caused by a recessive allele that is a result of a mutation in which 3 bases result of a mutation in which 3 bases are deleted from a DNA moleculeare deleted from a DNA molecule

Sickle Cell Sickle Cell DiseaseDisease

Affects hemoglobin, which is a protein that Affects hemoglobin, which is a protein that carries oxygencarries oxygen

When oxygen levels are low the blood cells have When oxygen levels are low the blood cells have a sickle shape instead of the normal round a sickle shape instead of the normal round shapeshape

These sickle shaped blood cells clog blood These sickle shaped blood cells clog blood vessels and carry less oxygenvessels and carry less oxygen

Autosomal recessiveAutosomal recessive

How to Manage How to Manage Genetic DisordersGenetic Disorders

Karyotypes – used to detect Karyotypes – used to detect chromosomal disorders such as down chromosomal disorders such as down syndromesyndrome

Genetic counseling -Assess the risk of a Genetic counseling -Assess the risk of a genetic disorder by researching a genetic disorder by researching a family's history and evaluating medical family's history and evaluating medical records. records.

Blood TypingBlood Typingcontrolled by multiple allelescontrolled by multiple alleles

Human trait controlled by more than Human trait controlled by more than one allele is said to have one allele is said to have multiple multiple allelesalleles

Even though a gene may have multiple Even though a gene may have multiple alleles, a person can only carry 2 of alleles, a person can only carry 2 of those alleles because we have only 2 those alleles because we have only 2 chromosomeschromosomes

Four major blood types: A, B, AB, AND OFour major blood types: A, B, AB, AND OALLELES FOR BLOOD TYPES

A

B

O

Blood types A and Blood types A and B and ABB and AB

CodominantCodominant

Alleles for blood type A is AAAlleles for blood type A is AA

Alleles for blood type B is BBAlleles for blood type B is BB

a cross between blood type A and a cross between blood type A and blood type B blood type B

Results in a person with type AB bloodResults in a person with type AB blood

Blood Type OBlood Type O

Allele for blood type O is recessiveAllele for blood type O is recessive

Only way to get blood type O is to have Only way to get blood type O is to have both parents with blood type Oboth parents with blood type O

TYPE O BLOOD

Oh, the Oh, the possibilities!possibilities!

ALLELE FROM PARENT 1

ALLELE FROM PARENT 2

GENOTYPE BLOOD TYPE

A A AA A

A B AB AB

A O AO A

B A AB AB

B B BB B

B O BO B

O O OO O

Advances in Advances in GeneticsGenetics

Human Genome ProjectHuman Genome Project

DNA fingerprintingDNA fingerprinting

Genetic engineeringGenetic engineering

Human Genome Human Genome Project (HGP)Project (HGP)

Genome is all the DNA in one cell of an Genome is all the DNA in one cell of an organismorganism

HGP- is the code that is 6 billion letters HGP- is the code that is 6 billion letters longlong

Main goal of the project is to identify the Main goal of the project is to identify the DNA sequence of every gene in the human DNA sequence of every gene in the human genomegenome

We have at least 30,000 genesWe have at least 30,000 genes

Average gene has about 3000 basesAverage gene has about 3000 bases

DNA DNA FingerprintingFingerprinting

DNA is broken down DNA is broken down into small fragmentsinto small fragments

Selected fragments Selected fragments rare used to produce rare used to produce a pattern calleda pattern called: : DNA FINGERPRINTDNA FINGERPRINT

Except for identical Except for identical twins no 2 people twins no 2 people have the same DNA have the same DNA fingerprintfingerprint

Genetic Genetic EngineeringEngineering

Genes from one organism are Genes from one organism are transferred into DNA of anothertransferred into DNA of another

Used to produce medicine and crops Used to produce medicine and crops resistant to diseasesresistant to diseases

Insulin (used by diabetics) is produced Insulin (used by diabetics) is produced by genetically engineered bacteriaby genetically engineered bacteria

Genetic Genetic Engineering of Engineering of

OrganismsOrganismsGenes are inserted into animals such as Genes are inserted into animals such as cows to produce the human clotting cows to produce the human clotting protein needed by people with protein needed by people with hemophiliahemophilia

Spider Goat