Muddiest Point Comment!

There is only two types of blood that involves having A in it and so it did not specify hybrid so it referred to just Type A rather than it being a hybrid and for your second question you had to put in HH which represented it was dominant and the disease was present. It also stated that the other parent did not have the disease which was presented as Hh because both letters would have to be HH to have the disease and if you applied that to a punnet square and checked out the offspring you can see how it is shown or expressed.

Muddiest Point

Hey so my muddiest point is comparing/ contrasting Mitosis and Meiosis. What are the major differences?
Also, what is Independent Assortment and the Law of Segregation?

Thanks!

Fragile X

Genetics of the Disorder:
Fragile X is inherited by a change in a part of a X chromosome. Most of the time mutations in a gene called FMR1 cause the Fragile X syndrome. Gene FMR1 is a gene used for holding the instructions for a protein called Fragile X mental retardation 1 protein.

Symptoms:
   Behavior includes:

• Delay in Crawling, Walking, or Twisting
• Hand clapping or hand bitting
• Hyperactive behaivor
• Mental Retardation
• Speech and Language delay
• And tries to avoid eye contact

   Physical Signs are:

• Flat Feel
• Flexible Joints 
• Large body size
• Large forehead or ears with prominent jaw
• Long Face
• Soft Skin

Signs:

• Large Head circumference in babies
• Mental retardation
• Large testicles after the start of puberty
• Small differences in facial features

Diagnosis:

To diagnose Fragile X you can get a molecular genetic testing of the FMR1 gene.

Treatment:

There is no specific treatment for Fragile X, but instead you can put them through training and education to help children with a certain needs, with lots of help.

Prevalence in the Population:

Fragile X syndrome occurs in approximately 1 in 4,000 males and 1 in 8,000 females, and occurs in all racial and ethnic groups.

Life Expectancy:

People with Fragile X have a normal life expectancy but about 15% of the boys and 5% of the girls develop seizures. 

Scribe 12/13/11

Today in class we turned in the web quest (UP 83-85) and we turned is as much as we did of it in class.

Here are 3 diseases you can see by looking at the karyotype:

1. Terner Syndrome: ONLY in a girl with 1 X chromosome

2. Down Syndrome: Has an extra chromosome (extra #21 chromosome)

3. Klinefelter Syndrome: Males have 2 X chromosomes which means they have (XXY)

More things we discussed in class include:

• The way you get a trisomy or monosomy is by a problem ("oops") during meiosis called a nondisjunction
• Most cases produce Gametes that are not viable (can't be used)

What is Genetic Engineering?

   Manipulating DNA for practical purposes:

• DNA sequencing and the Human Genome
• Transgenic organisms have many applications in agriculture
• DNA finger printing is used in forensics

   Genetic Engineering Tools:
       PCR:

• Polymerase Chain Reaction (PCR) uses DNA polymerase to make many copies of DNA

       Restriction Enzymes:

• Proteins with recognize and cut SPECIFIC base sequences in DNA
• Results in fragments of DNA with "Sticky Ends"

Later in class we watched a short movie called, "A Not So Perfect Match"

• When they find DNA on a crime they use it to see if they can find a person who has matching DNA or even something close to find a family member

HOMEWORK:

1. Muddiest Points!
2. Test FRIDAY
3. Quiz Retakes by THURSDAY
4. **Remember she will give stamps for UP 73/74 tomorrow**

Next Scribe: KELLI

Marfan Syndrome

Causes

• Caused by a mutation in the FBN1 gene on chromosome 15



• Inherited in families-autosomal dominant

Symptoms

• Vaired among people



• Can range from mild to severe



• Weak connective tissues in the heart, skeleton, eyes, and other organs



• Aorta may be larger



• Spine may be curved



• Eye lense might become dislocated



• Loose joints



• Chest bone may bend in or out



• Bone overgrowth-long, thin arms and legs

Diagnosis

1. Dilatated or dissected aorta



2. Dislocated eye lense



3. Lumbosacral dural ectasia- CT scan or MRI



4. At least four skeletal features of the disease
   


5. Close relative has the disease

Treatments

• Eyeglasses



• Artificial eye lense-surgery



• Arch supports/Orthotics



• Surgery for skeletal problems



• Medication to decrease stress on the aorta



• Surgery to repair the aorta



• Blood pressure medication



• Avoid competitive sports, isometric and statis exercise, certain medications, and caffeine

Prevalence

• Both sexes



• All ethnicities



• Rare-about 1 in 10,000

Life Expectancy

• Early to mid 70s if treated



• In the 40s if not treated

Muddiest Point

Hey guys, i'm having trouble remembering the different diseases and what kind of diseases they are. It would help if someone could list all of the diseases we need to memorize along with the kinds of diseases.

Muddiest Point

Hi Everyone!

I am still a little confused on autosomal dominant and autosomal recessive. How is it different from regular dominant and regular recessive. Please help. Thanks!