DNA Mutations

What are the 3 key features used to study chromosmes

Size, Banding Pattern, Centromere Position

What is the function of the centromere

It is required for chromosome separation during cell division.

What does it mean if a Centromere is metacentric

Centromere lies near the center

What does it mean if a Centromere is submetacentric

Centromere is off center

What does it mean if a Centromere is acrocentric

Centromere is very near one end.

What is a gene mutation?

Chagne in the gene sequence of DNA.

What are substitution, insertion, and deletion all?

Point mutations.

What is a substitution mutation

Base was substituted out

WHat are the 3 types of substitution mutations

Silent, Nonsense, Missense

What is a silent substitution

Mutation codes for the same amino acid.

Scientists estimate that humans have how many silent substitutions?

Hundreds

What is a nonsense substituion

Changes an amino acid to a stop

What is a missense substitution

Changes to a different amino acid

What is an insertion mutation

A base is added

What is a frame shift mutation

A mutation that shifts the reading frame

Which types of mutation are frame shift

Insertion and deletion.

What is a deletion mutation

A mutation that gets rid of a base.

What is an example of a substitution mutation

Sickle Cell Anemia

What is the shape of a normal cell

Circle

What is the shape of a sickle cell

sickle cell

What is sickle cell anemia

When cells have abnormal hemoglobin

What does hemoglobin do

carries oxygen in the body and helps to get rid of co2

What do Sickle Cells do in the blood stream

block blood flow.

How is the severity of sickle cell based

the ratio of normal to sickle cells.

Where are red blood cells made

Bone marrow

What is the average lifespan of a red blood cell

120 days

What is the average blood cell of a sickle cell

10-20 days

What is the complication with the low lifespan in sickle cells

Bone marrow can’t keep up

What can sickle cell cause

organ damage

Where is sickle cell anemia located

chromosome 11

What is an example of an insertion mutation

Tay-sachs disease

What does Tay-sachs disease do

Destroys nerve cells in brain and spinal cord

What are the symptoms of tay-sachs

Loss of mobility and motor skills

What does Tay-sachs lead to

Paralysis

What is the lifespan of a child with tay-sachs

5-6 years

How much time is spent in normalcy for a child with tay-sach

3-6 months

What is often seen in a child with tay-sachs on the eyes

A cherry red spot on the eye

Which chromosome is Tay-sachs located on

Chromosome 15

What causes the cherry red spot

Build up of Lipids in the Brain.

What is an example of a deletion mutation

Cystic fibrosis

What does cystic do

Buildup of thick sticky mucus in sinuses

What are sinuses the perfect place for

Bacterial infection

What does cystic damage

The respiratory and digestive system.

WHere is cystic fibrosis located

Chromosome 7

How many males with cystic are infertile

98%

Why are they infertile

Because they did not form a vas deferns

What is the definition of infertile

Produce sperm but can’t have offspring

What is fibrosis

scar tissue

What are treatments for cystic

steroid treatment, breathing device, hillrom vest

What does a hillrom vest do

Makes vibrations that breakup mucus.

What are the 4 types of chromosomal mutations?

Deleting, Duplication, Insertion, Translocation.

Study of structure and function of chromosomes

Cytogenetics

The number and visual appearance of chromosomes in a species

Karyotype

What is aneuploidy

Having an abnormal number of chromosomes.

SOme cells have the condition while other cells don’t

Mosaic

What is a polyploidy cell

An organism aquires one or more sets of additonal chromosomes.

An abnormal difference in body structure or human growth.

Dysmorphism

What type of chromosomal mutation is Cri Du Chat syndrome.

Partial deletion.

What is Cri Du Chat syndrome also know as?

Cat Cry Syndrome, 5P syndrome.

What is the main characteristic of a child with Cri Du Chat syndrome

A high pitched cry that sounds like a cat

What are the physical characteristics of a child with Cri Du Chat syndrome

Intellectual Disabillites, Wide set eyes.

What is the p end in a chromosome

P end

What is the q end of a chromosme

Q long arm

What does p stand for

Petite

What is the q

Next letter in the alphabet

Why is sometimes called 5p syndrome

Deletion occurs on P arm.

What chromosome is Cri Du Chat on

Chromosome 5.

What type of chromosomal mutation is Turner Syndrome

Full deletion.

What chromosome is turner syndrome missing

Entire x chromosome.

What is the gender of anybody with turner syndrome

Female

WHat are the physical characteristics of turner syndrome

Short, Wide neck.

What is another name for the wide neck that is often found in turners syndrome

Webbed neck.

What is mosaic turner’s syndrome.

SOme cells have it and some cells don’t,

What is the intelligence of mosaic turner

Normal

What happens to puberty because of turner.

Doesn’t happen.

WHat do Turner Sydnrome not develop

SEcondary Oocytes, Secondary Sex characteristics.

What is another name for Turner’s Syndrome

Monosomy 21st

What type of chromosomal mutation is down syndrome

Duplication

What is another name for down syndrome

Trisomy 21

What is down syndrome?

pair of 3 21st chromosomes

What are the physical characteristics of downsyndrome

Slanted eyes, Brush field spots, Flattened face, Protruding tongue, Simian crease, short.

What is the range of intellectual disabilities in downsyndrome

large.

What is downsyndrome related to

Mothers age.

What is Trisomy 18 also known as

Edwards Syndrome

When do most children with Edwards die

Before birth or 1st month.

What are the physical characteristics of Edwards syndrome

Lowset Ears, Rocker bottom feet, Clench overlapping fingers.

What are brushfields spots.

Little white dots in colored part of eye.

What are Rocker Bottom Feet

Feet that curve in front and back.

What is Trisomy 13 also known as

Patau Syndrome

What is the average lifespan for a child with patau

Death within first days or weeks.

What are the physical characteristics of Patau

Polydactly, Major Face Dysmophism, Poorly developed eyes, Cleft lip/pallete.

Where do most Patau children die

In the womb.

What is a cleft lip

Hole from lip to nose

what is a cleft pallete

Hole in roof of mouth.

What can scientists do to fix cleft’s?

Graft skin to close it.

What is Klinefelter syndrome

Duplication of X chromosome.

Is there a sign of Klinefelter usually

No

What is the only sign of klinefelter

Infertile

What is the mental disabilities based on in klinefelter

The amount of X’s.[p-

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What is Ginemsa Badning (g-banding)

Staining of chromosomes to identify abnormalities