MUTATION

Definition of Mutation the changing of the structure of a gene, resulting in a variant form that may be transmitted to subsequent generations, caused by the alteration of single base units in DNA, or the deletion, insertion, or rearrangement of larger sections of genes or chromosomes. What causes Mutation? DNA fails to copy accurately Most of the mutations that we think matter to evolution are naturally!occurring. "or e#ample, when a cell divides, it makes a copy of its DNA $ and sometimes the copy is not quite perfect. %hat small difference from the original DNA sequence is a mutation. &#ternal 'nfluences can create Mutations! Mutations can also be caused by e#posure to specific chemicals or radiation. %hese agents cause the DNA to break down. %his is not necessarily unnatural $ even in the most isolated and pristine environments, DNA breaks down. Nevertheless, when the cell repairs the DNA, it might not do a perfect (ob of the repair. )o the cell would end up with DNA slightly different than the original DNA and hence, a mutation.

XXY Chromosomes
*linefelter )yndrome occurs when a male is born with an e#tra + chromosomes in all or most of his cells. %hese people with this disorder are called ++, males. &ven though a person with *linefelter )yndrome has an e#tra + chromosome, he is still considered a male because he has a , chromosomes.

2n + 1 = 47 (44 + XXY)
Effects of Klinefelter Syndrome -ancer *linefelter syndrome is associated with an increased risk for breast cancer. Males with the disorder are also more likely to develop rare tumors called e#tragonadal germ cell tumors. %his occurs when cells that are supposed to develop into sperm cells travel to other parts of the body and develop into tumors. Although these tumors can grow anywhere in the body, they are commonly found in the brain, lungs, or abdomen. Autoimmune Disorders Men who have *linefelter syndrome also have an increased risk of developing autoimmune disorders such as systemic lupus erythematosus .)/&0, rheumatoid arthritis, and )(ogren1s syndrome. Autoimmune disorders occur when the immune system, which normally fights against diseases and infections, attacks the person1s own body. 'nfertility Males with *linefelter syndrome typically produce less testosterone than healthy males. As a result, patients are often infertile. 2owever, treatment with the male hormone testosterone may help some males have children. 3steoporosis

 4eople with *linefelter syndrome have an increased risk of developing osteoporosis, a condition that occurs when the bones become weak and brittle. %his is because males with the disorder typically have low levels of testosterone and males convert testosterone into bone!preserving estrogen. Examples of linefelter !"n#rome

XXX Chromosomes $Do%n&s !"n#rome'

%risomy 56 or Down )yndrome, occurs when a gamete with 57 chromosomes fuses with a normal gamete. An individual with Down8s )yndrome has an e#tra copy of chromosome number 56. %all and usually have below normal levels of intelligence. 2owever, they have no obvious defects. 2n + 1 = (44 +XXX)

Effects of Do%n&s !"n#rome

Physical Appearance 4eople with Down1s syndrome share a number of physical characteristics. Not everyone will have all of them, but they may include9 reduced muscle tone which results in floppiness.hypotonia0 a small nose and flat nasal bridge a small mouth eyes that slant upwards and outwards a big space between the first and second toe .sandal gap0 broad hands with short fingers their palm may have only one crease across it .palmar crease0 a below average weight and length at birth 2owever, it is important to note that people with Down1s syndrome do not all look the same and will share physical features with their parents and family. 2owever, it is important to note that people with Down1s syndrome do not all look the same and will share physical features with their parents and family.

Delayed Development All children with Down1s syndrome have some degree of learning disability and delayed development, but this varies widely between individual children. :abies with Down1s syndrome also often have short arms and legs and low muscle tone, making it harder for them to learn how to move. -ertain development milestones are often affected, including9 reaching sitting standing walking communicating talking reading A small proportion of children with Down1s syndrome have additional medical complications that also affect their development .see complications of Down1s syndrome0. )ome children also e#perience autistic spectrum disorders .A)D0 or attention deficit hyperactivity disorder .AD2D0. %hese e#tra difficulties affect about 6;< of children with Down1s syndrome. )peak to the health professionals working with your family for advice or an assessment if you believe your child may be e#periencing e#tra difficulties. 't is important to recognise that a child with Down1s syndrome may still acquire many of the cognitive and social skills most other people develop. 't simply takes more time, and a child should be allowed to move forward at their own pace. &#amples of Down8s )yndrome

XO $Turner&s !"n#rome'

Most people are born with two se# chromosomes. A boy inherits the + chromosome from his mother and the , chromosome from his father. A girl inherits one + chromosome from each parent. 'f a girl has %urner syndrome, one copy of the + chromosome is missing or significantly altered. %he genetic alterations of %urner syndrome may be one of the following9 Monosomy. %he complete absence of an + chromosome generally occurs because of an error in the father1s sperm or in the mother1s egg. %his results in every cell in the body having only one + chromosome $ a condition called monosomy. Mosaicism. 'n some cases, an error occurs in cell division during early stages of fetal development. %his results in some cells in the body having two complete copies of the + chromosome. 3ther cells have only one copy of the + chromosome, or they have one complete and one altered copy. %his condition is called mosaicism. , chromosome material. 'n a small percentage of cases of %urner syndrome, some cells have one copy of the + chromosome and other cells have one copy of the + chromosome and some , chromosome material. %hese individuals develop biologically as girls, but the presence of , chromosome material increases the risk of developing a type of cancer called gonadoblastoma. 3nly "emales is affected by %urner -hromosome &#amples of %urner )yndrome

Effects of Turner Syndrome =rowth spurts do not occur at e#pected childhood times. During the first three years of life the baby>toddler may be of normal height. 2owever, by the age of three their growth rate will be lower than average. %he person is much shorter than e#pected? about @ inches .5; cms0 shorter than e#pected for an adult female member of that family .without treatment0. /earning difficulties ! the ma(ority of girls with %) have normal intelligence, as well as good verbal and reading skills. %here may be some problems with math, spatial concepts, memory skills and fine finger movements. )ocial problems ! the patient may find it hard to properly interpret other people1s reactions or emotions. Non!functioning ovaries ! during puberty a female1s ovaries generally start producing estrogen and progesterone .se# hormones0. %he ma(ority of girls with %) will not produce these se# hormones, resulting in9 No onset of menstrual periods

 4oorly developed breasts 4ossible infertility Although the %) female has non!functioning ovaries and is infertile, her vagina and uterus .womb0 will generally be normal and she will usually be able to have a normal se# life.