Human Genetics
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Transcript of Human Genetics
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Human Genetics
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Human Genetic Map
http://www.hulu.com/watch/91438/ngc-presents-genetic-roadmaps
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How many chromosomes are in a human sperm or egg?
23
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How many chromosomes does a human have?
23 pairs
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What is the total human chromosome number?
46
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Do all animals have 23 chromosome pairs?
No, different species have different chromosome numbers and the number is not correlated to the complexity of the animal
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How can you tell if a human child has the correct number of
chromosomes?
Amniocentesis – removal amniotic fluid to check chromosomal abnormalities
Chorionic villus SamplingDiagnosis chromosome abnormalities
Fetal Blood samplingCheck for genetic or chromosomal
abnormalities
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Determination of sex
What are sex chromosomes?23 pair of chromosomes (X and Y)
How many sex chromosomes are there?2 –X chromosome and Y chromosome
How is your sex detemined?Female has 2 X chromosomes Male has 1 X and 1 Y chromosome
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Determination of sex
How can you predict the expected sex of a child?By using a punnett squareA female can donate only an X chromosome A male can donate either a X or a Y
chromosomeWhat is the chance that the offspring will
be male or female?50 %
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Other Facts about Chromosomes
Autosomes Other 44 body
chromosomes Sex Chromosomes
45 & 46 chromosomes Karyotype
A picture of chromosomes
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Pedigree
Pedigree Chart Chart that shows the
relationship within a family
Used to study human inheritance patterns
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Royal Family Pedigree
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How do you read Pedigree Chart?
Who is the carrier for color-blindness?
Which parent is unaffected?
Which grandchild was the first to exhibit colorblindness and hemophilia?
How many children affected?
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Royal Family Pedigree
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Human Genetic Disorders
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Genetic Disorders
Gene mutationsinherited from a
parent or acquired.
A hereditary mutation is a mistake that is present in the DNA of virtually all body cells.
Hereditary mutations (germ line mutations) the gene
change exists in the reproductive cells and can be passed from generation to generation, from parent to newborn.
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Autosomal Disorders
Disorders involving the other 22 pairs of chromosomes.
Can result from an extra chromosome or defective genes
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Autosomal Disorders Recessive Alleles
Disorders Albinism Cystic fibrosis Galactosemia Tay-Sachs Disease
Dominant Alleles Disorders Achondroplasia Huntington’s disease
Codominant Alleles Disorders Sickle cell disease
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Recessive Autosomnal Disorders
Cystic Fibrosis A recessive disorder that
occurs in about 1 of 2,500 people of white European ancestry.
Mutation gene on chromosome 17.
Characterized by excessive secretion of the mucus in the body.
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AlbinismPatients are unable to produce skin or eye
pigments, and thus are light-sensitive
Recessive Autosomnal Disorders
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Tay-Sachs Disease Central nervous system
degrades, ultimately causing death.
Buildup of fatty deposit in brain & mental disability
Found in Chromosome 15 Common among people
of Jewish, eastern Europe descent.
Recessive Autosomnal Disorders
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Galactosemia
1 in 50000-70000 affected Absent of gene that codes for
enzyme that break down galactose
Mental disabilities, enlarged liver, and kidney failure.
Monitor galactose intake
Recessive Autosomnal Disorders
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Autosomal Disorders Dominant Alleles
Disorders Achondroplasia Huntington’s disease
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Dominant Autosomal Disorders
Huntington Disease A dominant disorder that
occurs in about 1 of 10,000 people.
Chromosome 4 is responsible.
Causes degeneration of neurons producing dementia, and random jerking movements
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Dominant Autosomal Disorders
Achondroplasia (Dwarfism) Has small body size and
limbs that is short No treatment
Mini-Me
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Autosomal Disorders Codominant Alleles
Disorders Sickle cell disease
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Codominant Autosomnal Disorders
Sickle-Cell Anemia Occurs in about
people with African descent
The defective gene on chromosome 11
Blood cell sickled on increase resistance Malaria
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Sex Linkage (X-Linked) Disorders
If chromosomes are paired with other chromosomes with the same genes, what happens when you pair an X and Y chromosome?
Females have two forms of the same gene, just like on the rest of the chromosomes,
Men have only the form of the gene found on the X chromosome
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If color blindness is a trait inherited on the X chromosome, why are
men more likely to be color blind?
The man doesn’t have a second X chromosome to keep recessive genes from being expressed
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Sex-linked Disorders
Colorblindness Hemophilia
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Sex-Linked Disorders
Hemophilia –Royal Family Disease
Recessive disorders that affect 1 of 5,000 males.
Interfere with normal blood clotting and occur at different loci on the X chromosome.
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Sex-Linked Disorders
Color BlindnessGenetic X-linked
recessive disorder.Occurs in 1 of 10
males
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Informal
colorblind
test
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FIND A CIRCLE, SQUARE, and/or STAR
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FIND CAR, BOAT, DOG, or BALLOON
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Color BlindnessTest
Color Blindness
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Chromosomal Autosomal Disorders
Down SyndromeExtra copy of chromosome at 21
Sex Chromosome DisordersTurner’s Syndrome
Only One X chromosome (XO)Klinefelter’s Syndrome
Extra X chromosome (XXY)
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Chromosomal Autosomal Disorders
Down Syndrome Occurs in about 1 in
1,000 live births. An extra
chromosome is attached to the 21st pair.
Risk increases with pregnancies of women over age 35
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Chromosomal Sex-Linked Disorders
Klinefelter Syndrome (XXY, XXXY, XXXXY)
Occurs in about 1 of 1,000 males.
Caused by an extra X chromosome
Some development of breast tissue, little body hair, small testes, infertility, and evidence of mental retardation may or may not be present.
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Chromosomal Sex-linked Disorders
Turner’s Syndrome (XO)Occurs in about 1 of 10,000 females. One of the X chromosomes is either
missing or inactive. Women have immature female
appearance, do not develop secondary sex characteristics, and lack internal reproductive organs.
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Hermaphrodite
An individual whose body contains tissue of both male and female gonads.
The ovaries and testes may be present as separate organs, or ovarian and testicular tissue may be combined in the same organ.
CausesAdrenal Gland imbalance during pregnancyMale hormone imbalance
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The End