FAQ - Genetic Diseases, Y-Linked
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Genetics project on genetic diseases/disorders. Any ideas?


I have a project due tomorrow in genetics (that I am just now starting, haha), and I was wondering if anyone had any suggestions as to what I should research. I would like to do something really interesting and rare, yet something that I would be able to find alot of information on.

It can be about a specific genetic disease or disorder, which I would prefer, but it can also be about ANYTHING relating to genetics (my professor is very open minded). I am also very interested in sex chromosome linked disorders and polyploid diseases, i.e. Klinefelter syndrome, Turner syndrome....but I know alot of people in my class are probably going to do those.

Thanks for any suggestions!
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This may be far too late for your project but I'd recommend Fragile X syndrome.

Syndrome affects children with the full mutation but also carriers:
Females with POI/POF
Males (and some females) with FXTAS  (+ info)

R there any nervous system diseases that can be linked together?


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a colorblind hemophiliac man has two kids will they get the disease if, both diseases are sex-linked,?


amoung the 9 grandsons all except 1 are normal or have both diseases. why? whats the single exception?
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Is cystic fibrosis autosmal dominant, autsomal recessive, or sex linked genetic diease?


Neither parent has the genetic diease (cystic fibrosis), but their newborn does!!
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CF is autosomal recessive. Neither my husband or I have the disease but our son does! Both parents must carry one copy of the mutation and the child must inherit both copies to have the disease. If the child one inherits one copy of a mutation, he/she will be a carrier only.

Carriers of CF do not have symptoms (except in rare cases) and therefore it is very likely that neither parent knew their carrier status until the child was diagnosed.  (+ info)

What is the genetic basis for Parkinson's Disease?


I am currently working on a project for my biology class on parkinson's disease. in one of the boxes i have to put the genetic basis for PD.
(for example, is it sex linked, controlled by one or multiple alleles, non disjunction, random mutation of a certain gene, etc.)
I can't seem to find these answers anywhere.
Any answers or suggestions of sites would be great, thanks.
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The jury is still out for the full genetic basis for PD.

The latest concept is that Parkinson's disease is genetic and can remain dormant for generations. One reason that PD was not thought to be primarily or strictly genetic in nature was that sometimes many generations were skipped. It is possible that other factors have to act as the trigger. Environmental, medications, heavy metal exposure and the like.

I put the best link last but read down first as the expository info will be in the earlier links.

The first link is for two studies completed in 2008 by two researchers from the Mayo clinic where PD studies have been conducted for many years.

In one study a mutation of LRRK2-R1628P has been traced back to 2,500 BC. LRRK2-G2385R has been traced back 4,500 years.
Another study found that LRRK2-R1441C can increase the chances of developing PD by 10X.

http://www.scientistlive.com/European-Sc...

Next let's go to the LRRK2 (leucine-rich repeat kinease2) autosomal dominant mutation which you can read about here for starters because it has been identified in almost 5% of PD cases:

http://www.thelancet.com/journals/lancet...

There is a study currently recruiting for a LRRK2 study in Maryland:
http://clinicaltrials.gov/ct2/show/NCT00...

Glucocerebrosidase gene
GBA mutations (N370S, L444P, 84GG, IVS+1, V394L, and R496H) that are most common among Ashkenazi Jews
http://www.thelancet.com/journals/laneur...
70117-0/abstract

and GBA-Gly2019SER here:
http://content.nejm.org/cgi/content/shor...

A study published in 2007 indicated that genetic mutations were 2X as common in YOPD (Young or early onset Parkinson's Disease) and in people of Jewish Ancestry - specifically Ashkenazic)

Here is an abstract link about DJ-1, an autosomal recessive linked to PD. The abstract also references PARK6 and PARK7:
http://jnnp.bmj.com/cgi/content/abstract...

The best gene data base is here - it is a public and you can link to the site to see it:
http://datam.i2r.a-star.edu.sg/mdpd/stat...

In this chart you will see the gene, the number of reports and ethnic groups
Naturally it begins with LRRK2. PARK2 followed by SNCA, CYP2D6, PINK1, MAPT, UCHL1, MAOB, PARK7 and APOE
It then lists the top 10 genes with the most variants followed by the top 10 with the most negative reports.
There are several other comparisons you can do at the site, it is amazing. Check it out.

While it is true that more men than women develop PD that may be because of a bioprotectiveness of estrogen. Which of course ends at sometime with menopause.

You should probably search for Chinese - HAN - gene - Parkinson's disease. You might find the rest of the answer which you need. There are also several familial studies. I have read the abstracts but not the full studies.

Here are a few which should help:
http://www.ncbi.nlm.nih.gov/pubmed/12730996

Here's a familial study from Italy but it is older, 2003:
http://www.ncbi.nlm.nih.gov/pubmed/12873854?ordinalpos=1&itool=EntrezSystem2.PEntrez.Pubmed.Pubmed_ResultsPanel.Pubmed_DiscoveryPanel.Pubmed_Discovery_RA&linkpos=2&log$=relatedarticles&logdbfrom=pubmed

To properly search just enter each term with Parkinson's disease and you will find a host of abstracts and some articles about the abstracts. You will not find definitive answers because they aren't there yet. Pd is a complicated disease.  (+ info)

Difference between sex linked and genetic dieases?


Difference between sex linked and genetic dieases and why are males affected more offten than females
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Since the smoker is less healthy, doesn't he/she get many diseases and ailments besides those directly linked-


to smoking? A body weakened by smoking cannot fight sickness with the strength of a healthy body, can it?
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Can heart diseases be genetically linked?


I know it can be related to unhealthy lifestyle, but i drink alot of water, get good exercise, and sleep well, but could that not be enough? i worry about the genetics part because my mom has a heart problem and im worryed that i have it too.
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yes... but the leading cause for heart disease is an unhealthy lifestyle. That includes things like smoking, drinking excessively, eating unhealthy foods, and not getting enough exercise and sleep.

if you're worried about heart disease, you should look at your lifestyle before you worry about genetics.  (+ info)

What kind of genetic disease is down syndrome?


i know it's not autosomal dominant, autosomal recessive, or sex linked. so what is it?
i know it's a chromosomal disorder, but i was wondering what sub-category it is.
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You may want to visit www.WebMd.com for easy to understand terms...Sometimes when one gets into the genetics/DNA/RNA/Chromosonal activity, it gets a bit detailed. Good searching...great question~ Keep on inquiring til your desire to slow down ~ hopefully it will be always that you seek the information that feeds the mind!  (+ info)

Does a Thyroid Disorder HAVE TO BE genetic-linked?


My friend is suspecting a thyroid disorder due to her eyebrows falling out and her flaky skin on the face. But NO ONE in her family has it. What could cause her to be like this? Is it even possible?

thank you.
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Heredity is only one reason for having a thyroid condition. Autoimmune, diet, pregnancy, eating soy and fluoride can also be causes. I am hypothyroid and no one else in my family has a thyroid condition. I first had a thyroid incident after the birth of my daughter many years ago. Today its underactive. I blame the additives and fluoride in our foods and water  (+ info)

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