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Karyotypes and Mutations
Karyotype An orderly display of magnified images of the individuals chromosomes Shows the chromosomes as they appear in metaphase.
What is a Normal Karyotype? We are supposed to have 46 total chromosomes in each cell (22 pairs of autosomes = 44, + 2 sex chromosomes).
One source: Amniocentesis Take fluid from amniotic fluid around the baby Can make a karyotype to see if there is a genetic disorder
Preparing a Karyotype 1. Use blood cells.
Essay: Preparing a Karyotype 2. Burst RBC (red blood cells) in hypotonic solution. Release WBC (white blood cells).
Essay: Preparing a Karyotype 3. Use a centrifuge to separate the white blood cells from the rest of the blood fluid
Preparing a Karyotype 4. Add chemical (colchicine) to stop the chromatids in metaphase (stops spindle fibers from forming)
Preparing a Karyotype (cont) 5. Drop on a slide.
Preparing a Karyotype (cont) 5. Take a picture 6.Sort by size and shape from largest to smallest
Other types of Karyotypes
Types of Karyotypes Fluorescent to detect a marker showing certain defect
Types of Karyotypes Colored dyes for certain chromosomes
Types of Karyotypes Ideogram: bands locate sites on chromosome
Normal Karyotype WHY? Is it a Male or a female?
Down Syndrome Karyotype Trisomy 21
Down Syndrome Trisomy 21 Folds over eyes Sluggish muscles Mental Problems
Down Syndrome The most common chromosome number abnormality Round face flattened nose bridge small, irregular teeth
Down Syndrome Short Stature heart defects susceptibility to respiratory infection, leukemia and Alzheimers
Does the mothers age matter? As the age of the mother increases above 30, the frequency of Trisomy 21 also increases
Nondisjunction Uneven distribution of chromosomes in cell division
Abnormal Sex Chromosomes 47 XXY syndrome male testes small (sterile) breast enlargement feminine body contours Klinefelters
Klinefelters Syndrome also XXYY, XXXY, XXXXY
TURNER SYNDROME XO (only one X) short often web of skin between neck and shoulders sterile poor breast development
What about… MUTATIONS?
DELETION Fragment of the chromosome is lost
Duplication Fragment of one chromosome attaches to a homologous chromosome
Translocation Fragment reattaches in reverse direction (less likely to produce harm)
INVERSION The chromosome breaks in two places, a piece of the chromosome is removed and the chromosome pieces remaining rejoin.
Inversions Inversions, by definition, do not involve loss or gain of chromosomal material.
INVERSION 46,XY,inv(16) The left one is normal and the right one is inverted near the centromere.
45,XX,rob(13,14) A Robertsonian translocation (an end to end fusion of #13 and #14) There is no net gain or loss of genetic material in this person so they would have a normal phenotype.
Applications Chromosomes from the father of a retarded child... a portion of chromosome 11 (blue) has been yellow transfered to chromosome 1(yellow).
Ideogram Show only one set of chromosomes
CHAPTER 8B REVIEW. ESSAY #1 MITOSIS a. 2n to 2n (diploid to diploid) b. forms cells identical to parent cell MEIOSIS a. 2n to n (diploid to haploid) b.
MEIOSIS Making Sex Cells Get the Lingo Down!!! Somatic cell = body cell Skin Nerve Blood.
s Notes: Karyotypes Human Chromosomes- what you know… Humans have 46 chromosomes (diploid-2N) 2 of them are sex chromosomes (X and Y) they determine.
February 23, 2009 Objective: Discuss the effects of nondisjunction Drill: What is crossing over? What phase of meiosis does it occur?
Abnormal Meiosis: Genetic Disorders. Review: Human Chromosomes There are 46 chromosomes (23 homologous pairs) in each somatic cell 22 pairs of autosomes.
Karyotyping Chromosomes are extracted from a cell, stained, photographed and paired for genetic analysis in the lab. Karyotypes are used to identify chromosomal.
KARYOTYPING Honors Biology. What and How? Used as a way to “see” the chromosomes Pairs up homologous chromosomes Allows for detection of several genetic.
Errors in Meiosis Karyotypes & Chromosomal AbnormalitiesKaryotypes & Chromosomal Abnormalities.
Chromosomes and Karyotypes What is a Chromosome Terminology Chromosomal Mutations Differences among species Karyotypes Nondisjunction disorders.
Karyotype and Chromosomal Mutation Notes. What is a karyotype? A karyotype is a picture of chromosomes found in a typical human body cell. The karyotype.
A karyotype is a pictorial display of human chromosomes Used to determine abnormalities.
AP Biology Errors of Meiosis Chromosomal Abnormalities.
+ Chromosome Number Mutations 8.19 to Karyotype Photographic display of metaphase chromosomes arranged by size and centromere position Used to.
Karyotypes Karyotype = A display (picture) of all the chromosomes in the nucleus of a cell. A display (picture) of all the chromosomes in the nucleus.
MUTATIONS Mutations Changes to DNA are called mutations change the DNA changes the mRNA may change protein may change trait DNA TACGCACATTTACGTACG.
Mistakes made during meiosis can lead to abnormal numbers of chromosomes. This occurs when a homologous pair of chromosomes fail to separate. These.
24-1 Chapter 24: Patterns of Chromosome Inheritance Copyright © The McGraw-Hill Companies, Inc. Permission required for reproduction or display.
Tracing the Inheritance of the Human Y Chromosome Women have sex chromosomes of XX, and men have sex chromosomes of XY. Which of a man's grandparents could.
Chromosomal Disorders. Amniocentesis Single Chromosome Disorders 1.Deletion Genetic material is missing 2. Duplication Genetic material is present twice.
Karyotypes A karyotype is a map of an individual’s chromosomes. Karyotypes are normally used if a chromosomal genetic disorder is suspected in an individual.
Errors of Meiosis Chromosomal Abnormalities Chromosomal abnormalities Incorrect number of chromosomes – nondisjunction chromosomes don’t separate properly.
1 Chapter 11 Complex Inheritance and Human Heredity 11.3 Chromosomes and Human Heredity.
Section 6-1 Chromosomes. Cell division is the same as reproduction of the cell. Gametes – an organism’s reproductive cells Females – eggs Males – sperm.
Human Chromosomal Disorders. Human disorders due to chromosome alterations in autosomes (Chromosomes 1-22). No monosomies survive There only 3 trisomies.
Karyotypes—Human A karyotype is a photographic inventory of an individual’s chromosomes.
Karyotyping Biology Miss Schwipperty. Questions How many chromosomes come from your Father? How many chromosomes come from your Mother? What are.
AP Biology Ch Errors of Meiosis Chromosomal Abnormalities.
Mutations and Karyotyping. Ch. 10. pg Mutations Ch. 10. pg Changes in nucleotide sequence of DNA Changes in nucleotide sequence of DNA.
Chromosomes and Karyotypes. Review of Chromosomes Super coiled DNA Super coiled DNA Structure: It may be Structure: It may be –A single coiled DNA molecule.
Sex Determination & Nondisjunction Disorders June 13, 2016.
Karyotype- magnified images of chromosomes that are arranged in order A human karyotype.
Karyotypes. What are they? A “picture” of a person’s 46 chromosomes.
Karyotypes and Nondisjunction. KARYOTYPE: Definition Picture of chromosomes taken during metaphase (mitosis) when chromosomes are fully condensed Picture.
What is a mutation? Changes in the genetic material (DNA). A feature of DNA.
Chromosomal Abnormalities. Nondisjunction Incorrect number of chromosomes nondisjunction chromosomes don’t separate properly during meiosis.
Sex-Linked Genes Ms. Klinkhachorn February 14, 2011 AP Biology.
What do you notice most about this baby?. Human Genetic Chromosomal Mutations.
Mutations. 2 Mutation = change in genetic material Gene mutation = changes in a single gene Chromosomal mutation = changes in whole chromosomes.
Cell Cycle #4 - Errors of Meiosis Chromosomal Abnormalities.
Cell Division Meiosis Cell Division Meiosis Abnormal Meiosis.
Chromosomal Abnormalities You’ve seen the genes! Now you’ll see the chromosomes! Oh What Fun!
Ch. 15: Chromosomes and Genetics 1860’s: Mendel’s genetic experiments 1875: Process of mitosis discovered by cytologists 1890: Process of meiosis discovered.
Errors of Meiosis Chromosomal Abnormalities (Ch. 15)
CHAPTER 12 Chromosomes and Human Inheritance. Disorders caused by individual genes - dominant Individuals with the disorder only need 1 allele to have.
Honors Biology CH 9 Notes Chromosomal Mutations. What is a mutation? Changes in the genetic material (DNA). A feature of DNA.
WHEN MEIOSIS GOES WRONG. IMPORTANT TERMS Deletion Translocation Duplication Inversion Non-disjunction Monosomy Trisomy Prenatal Karyotype.
Human Genetics – Studying Chromosomes & Diseases.
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