1. Genetic Mutations

2. Mutations
New inherited traits, or mutations, may appear in a strain of plant or animal.
The first individual
showing the new trait is
called a mutant.

3. 2 Types of Mutations Chromosomal mutations
an abnormal change in the structure of all or part of a chromosome or in the number of chromosomes an organism has.

4. 2 Types of Mutations Gene mutations
a change that affects a gene on a chromosome
For a mutation to be inherited it must be present in the DNA of a gamete. The mutation must occur in a gamete or in any cell from which a gamete develops. Cannot be transmitted from body (somatic) cells.

5. How Mutations Happen
Mutations occur naturally at a low rate. They are usually the result of random errors in replication of the DNA.
If environmental factors cause a mutation, the factor is called a mutagen. (eg x-rays, UV light)

6. Mutation from UV Light

7. Chromosomal Mutations Three kinds:
1. Changes in Chromosome Structure
Chromosome structure may become permanently altered during meiosis when chromatids become entangled and their parts rearranged. (not same as crossing over)

8. Types of Changes in Chromosomal Structure
Four types:
Translocation – transfer of a part of a chromosome to a nonhomologous chromosome
Inversion – piece of the chromosome is rotated which reverses the order of genes
Addition – piece of a chromosome breaks off and attaches to a homologous chromosome which causes some genes to be repeated
Deletion – piece of the chromosome breaks off resulting in a loss of some genes.

9. Mutations from X-Rays

10. Chromosomal Addition Syndrome
Fragile X syndrome is caused when a spot on the X chromosome contains a stretch of nucleotides in which a small part of the chormosome is repeated (as many as 400 times). This causes a constriction in the x chromosome making it quite fragile. Males who inherit this X chromosome are mentally retarded. Females are only mildly affected.

11. Chromosomal Mutations Three kinds:
2) Nondisjunction
The addition or loss of a whole chromosome.
Happens when chromosomes that normally separate during meiosis remain together.
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12. Non-Disjunction Types
Monosomy refers to a condition in which there is one chromosome is missing. It is abbreviated 2N - 1. For example, monosomy X is a condition in which cells have only one X chromosome.
A trisomy has one extra chromosome and is abbreviated 2N + 1. Trisomy 21 is an example of a trisomy in which cells have an extra chromosome 21.

13. Non-Disjunction Types
Monosomies and trisomies usually result from nondisjunction during meiosis but can also occur in mitosis. They are more common in meiosis 1 than meiosis 2.
They are generally lethal except monosomy X (female with one X chromosome) and trisomy 21 (Down’s Syndrome).
Affected individuals have a distinctive set of physical and mental characteristics called a syndrome. For example, trisomy 21 is Down syndrome.

14. Some common chromosomal abnormalities are listed below.
Abnormality Karyotype
Down Syndrome Trisomy 21
Turner Syndrome X
Triple-X Syndrome XXX
Klinefelter Syndrome    XXY
Jacob Syndrome XYY

15. Karyotypes
Down Syndrome Karyotype
Turner Syndrome Karyotype

16. Triple X Syndrome
Triple X syndrome, also called trisomy X or 47,XXX, is characterized by the presence of an additional X chromosome in each of a female's cells. Although females with this condition may be taller than average, this chromosomal change typically causes no unusual physical features. Most females with triple X syndrome have normal sexual development and are able to conceive children.
Triple X syndrome is associated with an increased risk of learning disabilities and delayed development of speech and language skills. Delayed development of motor skills (such as sitting and walking), weak muscle tone (hypotonia), and behavioral and emotional difficulties are also possible, but these characteristics vary widely among affected girls and women. Seizures or kidney abnormalities occur in about 10 percent of affected females.

17. Triple X Syndrome Karyotype

18. Klinefelter Syndrome
Klinefelter's syndrome, 47, XXY, or XXY syndrome is a condition in which human males have an extra X chromosome.
The condition exists in roughly 1 out of every 1,000 males. One in every 500 males has an extra X chromosome but does not have the syndrome.
The principal effects are development of small testicles and reduced fertility. A variety of other physical and behavioral differences and problems are common, though severity varies and many boys and men with the condition have few detectable symptoms.

19. Klinefelter Syndrome Karyotype

20. Jacob Syndrome
Jacob's syndrome is a rare chromosomal disorder that affects males.
Males with Jacob's syndrome, also called XYY males.
Jacob's syndrome occurs when a male inherits two Y chromosomes from his father instead of one.
There are many symptoms associated with Jacob's Syndrome. The most common symptoms are:
learning problems at school
delayed emotional maturity
Males with Jacob’s syndrome are tall, thin, have acne, speech problems, and reading problems.

21. Jacob Syndrome Karyotype

22. Turner Syndrome
Turner syndrome is caused by monosomy X (absence of an entire sex chromosome).
Occurring in 1 in 2000 – 1 in 5000 females, the syndrome has a number of varied side effects. There are characteristic physical abnormalities, such as ‘short stature, swelling, broad chest, low hairline, low-set ears, and webbed necks.
Girls with Turner syndrome typically experience non-working ovaries, which results in an absence of menstrual cycle and sterility. Other health concerns are also frequently present, including ‘congenital heart disease, hypothyroidism, diabetes, vision problems, hearing concerns, and many autoimmune diseases.
Cognitive deficits that are common with particular difficulties in visuospatial, mathematical, and memory areas.

24. Non-Disjunction Types
3) Polyploidy
Cells have some multiple of the chromosome number.
Happens when chromosomes do not separate normally during mitosis or meiosis.
Euploidy is the condition of having an exact multiple of the haploid number
Aneuploidy is the condition where the chromosome number is not an exact multiple of the normal haploid set