essay #27924

 

Topic:  Genetic Testing For Huntington`s Disease


 

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Type of paper: Term Paper
Subject area: Biology
Academic level: High school, College, Bachelor
Style: MLA
Size: 105.0 kB
Word count:
3707 words/14 pages
Mark awarded:  
Author: Prudence Lynn
Date submitted: 2008-11-21 20:41:24
Rating/Votes count:
5.00 / 4
 
Tags: why, disease, genetic, huntington, summary, testing, cgi, pgd, CGI, Disabilities Education, PGD, Public Health Effects, Genetic Testing, Huntington, Greenpeace International, Preimplantation Genetic Diagnosis, Arabs Injustice Huntington, Braille Study
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Genetic Testing for Huntington 's disease
Huntington 's disease (HD ) is a late onset , progressive type of
neurodegenerative ,
disease which is characterized by progressively worsening physical and
mental abnormalities ,1 and finally death (Walker , 218 . Though symptoms
of HD can appear at any age from 1 to 80 years , they most commonly
appear in an individual between 30 to 50 years of age and progress over
a span of 10 to 25 years (Walker , 218 . HD affects the individual 's
ability to think , speak and walk . HD is a hereditary disorder which is
inherited in an autosomal dominant pattern1 . This means that every child
born to a person , who has HD , regardless of gender , has a 50 chance of
inheriting the gene that causes HD (as shown in figure 1 . Since the
defect is on autosomes , men and women are equally affected , so either
parent may pass on the HD gene to any offspring (Meiser Dunn , 575 .
Every person who inherits the HD gene will eventually develop the
disease while non carriers will definitely not develop the disease . Thus
if one does not inherit the gene , one cannot pass it on .
1 To understand the exact clinical course followed by HD see the article
``Huntington 's disease ' by Walker , Francis O . in the Lancet . 369 ,
9557 (2007 ) especially page 218-219 .
2 Autosomal dominant inheritance implies that person needs to have only
one mutant gene to express this disease phenotypically and he can
inherit it from either of his parents (Walker , 218 . Also see figure .1
Figure 1 . Autosomal Dominant Pedigree Chart
Source : Walker Jeremy . Autosomal Dominant Pedigree Chart . 2006 . Accessed
7 April 2007
Genetic Defect Involved in Huntington 's disease .
The gene which undergoes mutation resulting in HD lies on the short arm
of chromosome
4 (Walker 220 . The normal gene is actually a segment of DNA which
contains a strip of trinucleotide sequences usually of the type
cytosine-adenine-guanine (CAG ) at one end . Mutation of this gene results
in expansion of these unstable trinucleotide CAG repeat sequences (Walker 220 .Everyone has two copies of the normal gene . The people with
HD have mutation of one of these genes . The causative mutation in HD is
in the first exon of the IT15 gene on chromosome 42 .The mutation results
in abnormal production of glutamine (amino acid represented by CAG )
which can aggregate to form polyglutamine chains (Walker 222 .
Development of HD depends on number of CAG repeats contained within the
copies of the HD genes . When the number of these CAG repeats is 41 or
more , the disease is fully penetrant (i .e . expresses itself
completely . Incomplete penetrance is observed in people who have
between 36-40 CAG repeats . If number of these CAG repeats is 35 or less ,
the disease does not manifest itself (Walker , 220 . The number of CAG
repeats may change as the gene passes from parent to child . Thus the
child may show slightly fewer or slightly...
 

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