Talk:Genetic disorder

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Why are humans so defective compared to other mammals?[edit]

It would be interesting to see some data and citations on the comparison of humans and other mammals, especially primates in regard to genetic disorders and to see some citations from experts on why this may be, because it is pretty staggering that we humans evolved from stronger, healthier animals yet the human fossil record shows that we have suffered genetic abnormalities for almost our entire tenure on this planet, ie. over 200,000 years. Proof Reader (talk) 07:21, 1 September 2009 (UTC)

Recessive[edit]

Recessive disorders appears to have been merged into this article in the past.Leevanjackson 13:34, 12 August 2006 (UTC)

edit·history·watch·refresh Stock post message.svg To-do list for Genetic disorder:
Has section stubs

:Table should be converted into prose

More links are needed

Men?[edit]

82.27.24.198 09:42, 19 October 2006 (UTC)

This is not a stupid question. However, one point of clarity is necessary. A disease defined as "fatal" or "lethal" is often deadly in the embryonic stage, so it may not be observed in the population. If such a disease is fatal in only men or only women, it is usually because of its locus on the sex chromosomes. See the section on this page about X-linked dominant diseases for an example and explanation. - Raetzsch 19:37, 6 December 2006 (UTC)

Polygenic redirection[edit]

I believe that 'Polygenic' should not redirect here. In its simplest context, the word 'polygenic' describes any phenotypic trait that is attributed to multiple genes. A disease state is not implied. See http://www.medterms.com/script/main/art.asp?articlekey=4986 for a general definition. - Raetzsch 04:31, 15 November 2006 (UTC)

A bombs[edit]

surely it would be better to say that radiation can cause genetic disorders, rather than just mentioning Japan. Judderman85 15:06, 9 December 2006 (UTC)

Expansion needed[edit]

If anyone has any expertise in this area, the article needs some considerable expanding. A section on how chromosome disorders occur, and what can be done about them is needed. Also, the "Study of Genetic Diseases" and "Medical diagnosis, treatment, and counseling" Stubs need expansion.NightFalcon90909 14:35, 7 January 2007 (UTC)

Y-linked diseases[edit]

If the only Y-linked disease is infertility, then explain this statement: "All of the sons of an affected father are affected." I highly doubt that infertile men get medical help to produce infertile sons. Or?

Autosomal recessive conditions[edit]

One new addition to the list is rice-brand earwax, a type of ear excretion that lacks moisture. Please see note #1 for more info. —The preceding unsigned comment was added by Uniblitz (talkcontribs) 14:56, 13 May 2007 (UTC).

Is this really called "rice-brand" ear wax? The term seems offensive. —Preceding unsigned comment added by 192.75.139.248 (talk) 14:40, 2 December 2010 (UTC)

I think the correct term is "rice-bran", see [1] for example. I've changed the article.-gadfium 00:21, 3 December 2010 (UTC)

Autosomal dominant penetrance[edit]

Don't have time to check this out right now - but in the table it mentions most autosomal dom have low penetrance, eg HD. But it looks to me that HD is high penetrance (95%) and I wonder if mostare high penetrance? Leevanjackson (talk) 13:05, 27 November 2007 (UTC)

Genetic condition vs. genetic disorder[edit]

Can we change the title of this article to "Genetic condition", which is the term most genetic professionals use? It is more neutral & patient friendly. In Wikipedia:Manual of Style (medicine-related articles)#Careful language, caution on the use of the word "disorder" is advised for this reason.Kxw1 (talk) 16:58, 19 December 2007 (UTC)

Sex-linked disorders?[edit]

What would people think about re-organizing the headings to include the X-linked and Y-linked conditions under a more cohesive heading, "Sex-linked disorders"? I know that books use the terms X-linked dominant and X-linked recessive, but these distinctions can be confusing with regard to conditions where the phenotype can be milder in females (example: Ornithine Transcarbamylase deficiency), or when aspects of the phenotype arise in female carriers later in life (example: cardiomyopathy in carriers of Duchenne Muscular Dystrophy mutations).

It would be much simpler to handle these all under the same heading and discuss the issues of hemizygosity in males and X-inactivation in females, both of which impact the expression of the X-linked syndromes.

Any thoughts? Medical geneticist (talk) 22:09, 8 August 2008 (UTC)

Sounds like a good idea - as it would be more readable to the average person. LeeVJ (talk) 01:34, 9 December 2008 (UTC)


the X linked recessive bit is wrong i think. if the woman has the condition, and its recessive, then she has 2 (X) copies of the recessive gene. therefore she will give all her sons a copy of the recessive X gene, ie 100% chance the son will have the condition. and similarly her daughters will 100% have at least one copy of the X gene, the other X coming from the father, who may or may not have the condition. or so it seems to me. —Preceding unsigned comment added by 134.36.53.243 (talk) 14:13, 12 May 2009 (UTC)

Fixed. This may have been a typo because it looked like the intent was for the example to be a female carrier of an XLR condition. --- Medical geneticist (talk) 16:37, 21 May 2009 (UTC)

Identification[edit]

How is DNA used to identify people. THIANYU (talk) 10:16, 19 February 2009 (UTC)

Klinefleter's symdrome[edit]

Klinefelter's symdrome is not an X-linked disorder. It is usually caused by non-dysjunction, the genotypic appearance being XXY, or XXXY instead of normal XY. The only X-linked dorminant disease welknown in humans is Vitamin D Resistant Ricket. —Preceding unsigned comment added by 220.255.7.157 (talk) 12:57, 21 May 2009 (UTC)

This passage was a bit misleading so I went ahead and changed it up a bit to clarify. I don't think that the original editor meant to imply that Klinefelter syndrome is X-linked dominant, rather to use it as an example in which a male could be affected with Rett or Aicardi. Hopefully it makes more sense now? I also added your example of XL Rickets which is of course a classic example that should have been there to begin with. --- Medical geneticist (talk) 16:40, 21 May 2009 (UTC)

Monogenic redirection[edit]

Why does "Monogenic disorder" redirect here? Is it a synonym for "Single gene disorder"? If so, I would specify it somewhere. Like for instance at the beginning of the section "Single gene disorder".
212.126.224.100 (talk) 14:02, 22 September 2010 (UTC)

I think there is confusion in the field of experts right now on what monogenic and single-gene disorder mean. If the same disorder can be caused by two different genes, but in any given individual it is caused by only one of these two genes, is it a single-gene disorder or monogenic or oligogenic.

Indeed, the article as currently written offers no definition of monogenic, and so monogenic should not redirect here.

"A genetic disorder may or may not be a heritable disorder"[edit]

This has to go Genetics is the study of inheritance. By definition, genetic disorders are heritable. The fact that the disorder may be a result of a new mutation does not change this fact - once established, the new mutation is part of the genetics of the individual, and will be heritable to following generations.

The only way you could make that claim work is if a new mutation killed the individual, who could not then pass it on to the next generation. But in that case, it is not a genetic disorder - it is more of a biochemical or cellular disorder. MarkBul (talk) 00:32, 30 November 2011 (UTC)

The first para above by Mark is quite correct, and should have been obvious to others. I have rephrased the intro. Macdonald-ross (talk) 12:15, 22 March 2013 (UTC)

A true statement, but seems to introduce more confusion than reduce it. Yes, of course a disorder caused by a de novo mutation is a genetic disorder (I clearly strongly disagree with the comment above that this particular form of genetic disorder is merely biochemical or cellular - indeed pretty much every genetic disorder is also both biochemical and cellular). and if it is always lethal in youth, it will not be heritable. Perhaps this discussion could go into a entry on 'heritability'. I am also not so sure that "by definition" genetic disorders are heritable. One would have to very carefully read both the definition of genetic disorder and "heritable" to decide if that here true. And make a very careful distinction between the adjective 'heritability' and the noun 'heritable' which may have rather divergent definitions. One attempt at a definition of genetic disorder would start along the lines of "any disorder influenced by variability in the base-pair sequence of the genome".

The iceberg of disorders and necessary self-correction.[edit]

There is lots of "missing heredity" shown by twin studies, as well as the ENCODE discovery that most if not all DNA is functionally active. This, combined with the limits to how many defects natural selection can purge (which is the theoretical argument believers in neutral theory uses to justify their belief that most DNA must be junk) shows that there must be some self-correction unexplainable by reductionist medicine, just to explain why we are not all dead. Retroviruses are known to violate the central dogma of molecular biology by turning RNA into DNA, and there is evidence for the presence of retroviruses in placentas. When the retroviruses in sheep placenta were blocked, all of the embryous were spontaneously aborted. That cannot be explained simply by immunological rejection, since the cells could have produced that chemical signal on their own without any free-moving retroviruses outside the cells. So clearly patients can, in principle, cure themselves from genetic diseases by cells naturally genetically engineering themselves. This is NOT blaming of patients for being sick, since the blaming creates social pressure to make up justifications on the lines of "I cannot help it" and those justifications paralyzes the vital self-correction. The whole focus on specific genetic diseases is an absurd tip of the iceberg exceptionalism, since missing heredity shows that we all have multiple defects that should be lethal and incurable according to reductionist medicine. This is explained in the article "Self-organization" on topic page "Evolution", in the articles "Brain", "Multiple stages of justification poisoning" and "Moderating the free will debate" on topic page "Psychology" and on topic page "Advice of ways to stop justifying" on http://purescience.wikia.com

109.58.99.190 (talk) 16:58, 10 February 2013 (UTC)Martin J Sallberg

ENCODE did not 'discover' that most DNA is functionally active. That is a mistaken press interpretation of the research article. I have spoken with the author that wrote that particular section of the ENCODE paper. It is over-interpreted in the media.

Prognosis and treatment of genetic disorders[edit]

Hey there, I am new to contributing to Wikipedia, but I would like to start an extended project to expand the content under prognosis and treatment of genetic disorders. I will continually update this section with comments, questions, and propositions

  • isn't the clause "of genetic disorders" redundant considering the title of this page is "genetic disorder?" any opposition to deleting it? Marcar244 (talk) 20:18, 20 November 2014 (UTC)
  • split prognosis and treatment into two separate sections Marcar244 (talk) 20:04, 25 November 2014 (UTC)
  • More detailed updates of specific content and sources posted to Draft Page Marcar244 (talk) 21:04, 25 November 2014 (UTC)
  • heard no response- went ahead and updated page with changes Marcar244 (talk) 23:14, 15 December 2014 (UTC)