Dictionary » H » Huntington disease

Huntington disease

Huntington disease

(Science: neurology) An inherited adult-onset disease of the central nervous system.

It is characterised by dementia and bizarre involuntary movements. The disease is progressive and there is currently no known cure.

The identification of the gene (huntingtin) on chromosome 4p now allows for direct mutation analysis. The gene contains a trinucleotide repeat (CAG) that is found to be expanded in length in affected patients. The normal allele size ranges from 11 to 34 triplet repeat units, while 42 repeats or greater is considered diagnostic of huntington disease.

as in other trinucleotide repeat disorders, the phenomenom of anticipation has been observed, in this case expressed as earlier age of onset in offspring, particularly with paternal transmission. A further complication is the presence of two neighboring trinucleotide repeats (both CCG) which can expand independently without causing the disease.

early pcr primer sets encompassed these adjacent repeats, potentially yielding false positive test results, newer primers hone in more closely on the CAG repeat sequence.

Careful attention must be paid to the psychosocial support structure of prospective test subjects in huntington disease genetic counseling. Established protocols require systematic neuropsychiatric assessment and informed consent prior to dna testing.

Inheritance: autosomal dominant.


Please contribute to this project, if you have more information about this term feel free to edit this page



Results from our forum


Re: Re:

... inheritance is the key to this problem. Ask your doctor if this is Huntington's. It affects males and females disproportionally shown in some ... I disagree with your assessment. Later onset is NOT absence of the disease. Overall, this seems to be one of those incomplete problems that ...

See entire post
by david23
Tue Sep 18, 2012 8:47 pm
 
Forum: Genetics
Topic: Need help in an assignment
Replies: 17
Views: 11079

Re:

... inheritance is the key to this problem. Ask your doctor if this is Huntington's. It affects males and females disproportionally shown in some ... I disagree with your assessment. Later onset is NOT absence of the disease. Overall, this seems to be one of those incomplete problems that ...

See entire post
by Cat
Mon Sep 17, 2012 1:44 pm
 
Forum: Genetics
Topic: Need help in an assignment
Replies: 17
Views: 11079

Natural selection ends in absurdity or nonsense

... Now some people argue that a disease or genetic disorder that does not affect reproduction is not considered ... in every 200 births. Examples are cystic fibrosis, sickle-cell anemia, Huntington's disease, and hereditary hemochromatosis” Now some people argue ...

See entire post
by jumma
Sat Jul 14, 2012 2:58 pm
 
Forum: Evolution
Topic: Natural selection ends in absurdity or nonsense
Replies: 26
Views: 21848

Need Help With Some Sample Test Question

2. as HPTY said, person at 35 may have already children and moreover, Huntington's disease has slow progression so even after that age one can still have children, although is ...

See entire post
by JackBean
Tue May 15, 2012 9:47 am
 
Forum: Genetics
Topic: Need Help With Some Sample Test Question
Replies: 3
Views: 2018

Autosome dominant

Huntington's specifically acts like any other autosomal dominant gene. A pedigree (family tree) ... does not have huntington's (his genotype is hh). You have a 50% chance of having the disease because, under the rule of independent assortment, which ova that is fertilized by ...

See entire post
by spensers
Fri Oct 08, 2010 6:07 pm
 
Forum: Genetics
Topic: Autosome dominant
Replies: 3
Views: 5324
View all matching forum results

This page was last modified 21:16, 3 October 2005. This page has been accessed 7,673 times. 
What links here | Related changes | Permanent link