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==Overview==
 
A '''genetic disorder''' is a condition caused by abnormalities in [[gene]]s or [[chromosome]]s. While some diseases, such as [[cancer]], are due to genetic abnormalities acquired in a few cells during life, the term "genetic disease" most commonly refers to diseases present in all cells of the body and present since [[Fertilisation|conception]]. Some genetic disorders are caused by [[chromosomal abnormalities]] due to errors in [[meiosis]], the process which produces reproductive cells such as [[sperm]] and [[Ovum|eggs]]. Examples include [[Down syndrome]] (extra chromosome 21), [[Turner Syndrome]] (45X0) and [[Klinefelter's syndrome]] (a male with 2 X chromosomes). Other genetic changes may occur during the production of germ cells by the parent. One example is the triplet expansion repeat mutations which can cause [[fragile X syndrome]] or [[Huntington's disease]]. Defective genes may also be inherited intact from the parents. In this case, the genetic disorder is known as a '''hereditary disease'''. This can often happen unexpectedly when two healthy carriers of a defective [[recessive gene]] reproduce, but can also happen when the defective gene is [[dominant gene|dominant]].
 
A '''genetic disorder''' is a condition caused by abnormalities in [[gene]]s or [[chromosome]]s. While some diseases, such as [[cancer]], are due to genetic abnormalities acquired in a few cells during life, the term "genetic disease" most commonly refers to diseases present in all cells of the body and present since [[Fertilisation|conception]]. Some genetic disorders are caused by [[chromosomal abnormalities]] due to errors in [[meiosis]], the process which produces reproductive cells such as [[sperm]] and [[Ovum|eggs]]. Examples include [[Down syndrome]] (extra chromosome 21), [[Turner Syndrome]] (45X0) and [[Klinefelter's syndrome]] (a male with 2 X chromosomes). Other genetic changes may occur during the production of germ cells by the parent. One example is the triplet expansion repeat mutations which can cause [[fragile X syndrome]] or [[Huntington's disease]]. Defective genes may also be inherited intact from the parents. In this case, the genetic disorder is known as a '''hereditary disease'''. This can often happen unexpectedly when two healthy carriers of a defective [[recessive gene]] reproduce, but can also happen when the defective gene is [[dominant gene|dominant]].
  
Currently around 4,000 genetic disorders are known, with more being discovered. Most disorders are quite rare and affect one person in every several thousands or millions. [[Cystic fibrosis]] is one of the most common genetic disorders; around 5% of the population of the [[United States]] carry at least one copy of the defective gene. Some types of recessive gene disorder  confer an advantage in the [[Zygosity|heterozygous state]] in certain environments. <ref> WGBH Educational Foundation[http://www.teachersdomain.org/resources/tdc02/sci/life/gen/lp_disorder/index.html]</ref>
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Currently about 4,000 genetic disorders are known, with more being discovered. Most disorders are quite rare and affect one person in every several thousands or millions. [[Cystic fibrosis]] is one of the most common genetic disorders; around 5% of the population of the United States carry at least one copy of the defective gene. Some types of recessive gene disorder  confer an advantage in the [[Zygosity|heterozygous state]] in certain environments. <ref> WGBH Educational Foundation[http://www.teachersdomain.org/resources/tdc02/sci/life/gen/lp_disorder/index.html]</ref>
  
 
Genetic diseases are typically diagnosed and treated by [[geneticists]].  [[Genetic counselor]]s assist the [[physicians]] and directly counsel patients.  The study of genetic diseases is a scientific discipline whose theoretical
 
Genetic diseases are typically diagnosed and treated by [[geneticists]].  [[Genetic counselor]]s assist the [[physicians]] and directly counsel patients.  The study of genetic diseases is a scientific discipline whose theoretical
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==Single gene disorders==
 
==Single gene disorders==
Where genetic disorders are the result of a single mutated gene they can be passed on to subsequent generations in the ways outlined in the table below. [[Genomic imprinting]] and [[uniparental disomy]], however, may affect inheritance patterns. The divisions between recessive and dominant are not "hard and fast" although the divisions between autosomal and X-linked are (related to the position of the gene). For example, [[achondroplasia]] is typically considered a dominant disorder, but young goats or children with two genes for achondroplasia have a severe skeletal disorder that achondroplasics could be viewed as carriers of. [[Sickle-cell anemia]] is also considered a recessive condition, but carriers that have it by half along with the normal gene have increased immunity to malaria in early childhood, which could be described as a related dominant condition.
+
Where genetic disorders are the result of a single mutated gene they can be passed on to subsequent generations in the ways outlined in the table below. [[Genomic imprinting]] and [[uniparental disomy]], however, may affect inheritance patterns. The divisions between recessive and dominant are not "hard and fast" although the divisions between autosomal and X-linked are (related to the position of the gene). For example, [[achondroplasia]] is typically considered a dominant disorder, but children with two genes for achondroplasia have a severe skeletal disorder that achondroplasics could be viewed as carriers of. [[Sickle-cell anemia]] is also considered a recessive condition, but carriers that have it by half along with the normal gene have increased immunity to malaria in early childhood, which could be described as a related dominant condition.
 
{| border="1" cellpadding="2" class="wikitable"
 
{| border="1" cellpadding="2" class="wikitable"
 
!Inheritance pattern
 
!Inheritance pattern
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|-
 
|-
 
| [[Autosomal dominant]]
 
| [[Autosomal dominant]]
|Only one mutated copy of the gene is needed for a person to be affected by an autosomal dominant disorder. Each affected person usually has one affected parent. There is a 50% chance that a child will inherit the mutated gene.  Conditions that are autosomal dominant have low [[penetrance]], which means that, although only one mutated copy is needed, a relatively small proportion of those who inherit that mutation go on to develop the disease, often later in life.  
+
|Only one mutated copy of the gene will be necessary for a person to be affected by an autosomal dominant disorder. Each affected person usually has one affected parent. There is a 50% chance that a child will inherit the mutated gene.  Conditions that are autosomal dominant have low [[penetrance]], which means that, although only one mutated copy is needed, a relatively small proportion of those who inherit that mutation go on to develop the disease, often later in life.  
|[[Huntingtons disease]], [[Neurofibromatosis 1]], [[Marfan Syndrome]], [[Hereditary nonpolyposis colorectal cancer]]
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|[[Huntington's disease]], [[Neurofibromatosis 1]], [[Marfan Syndrome]], [[Hereditary nonpolyposis colorectal cancer]]
 
[[Hereditary multiple exostoses]]is high penetrance autosomal dominant disorder   
 
[[Hereditary multiple exostoses]]is high penetrance autosomal dominant disorder   
 
|-
 
|-
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 +
 
|[[Autosomal recessive]]
 
|[[Autosomal recessive]]
 
|Two copies of the gene must be mutated for a person to be affected by an autosomal recessive disorder. An affected person usually has unaffected parents who each carry a single copy of the mutated gene (and are referred to as carriers). Two unaffected people who each carry one copy of the mutated gene have a 25% chance with each pregnancy of having a child affected by the disorder.
 
|Two copies of the gene must be mutated for a person to be affected by an autosomal recessive disorder. An affected person usually has unaffected parents who each carry a single copy of the mutated gene (and are referred to as carriers). Two unaffected people who each carry one copy of the mutated gene have a 25% chance with each pregnancy of having a child affected by the disorder.
|[[Cystic fibrosis]], [[Sickle cell anemia]], [[Tay-Sachs disease]], [[Spinal muscular atrophy]], Dry (otherwise known as "rice-brand") [[earwax]]<ref name=Wade>{{
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|[[Cystic fibrosis]], [[Sickle cell anemia]](Also Partial Sickle Cell Anemia), [[Tay-Sachs disease]], [[Spinal muscular atrophy]], Dry (otherwise known as "rice-brand") [[earwax]]<ref name=Wade>{{
 
   cite journal
 
   cite journal
 
   | author= Wade, Nicholas
 
   | author= Wade, Nicholas
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|[[X-linked dominant trait]]
 
|[[X-linked dominant trait]]
 
|X-linked dominant disorders are caused by mutations in genes on the [[X chromosome]]. Only a few disorders have this inheritance pattern. Males are more frequently affected than females, and the chance of passing on an X-linked dominant disorder differs between men and women. The sons of a man with an X-linked dominant disorder will not be affected, and his daughters will all inherit the condition. A woman with an X-linked dominant disorder has a 50% chance of having an affected daughter or son with each pregnancy. Some X-linked dominant conditions, such as [[Aicardi Syndrome]], are fatal to boys, therefore only girls have them (and boys with [[Klinefelter Syndrome]]).  
 
|X-linked dominant disorders are caused by mutations in genes on the [[X chromosome]]. Only a few disorders have this inheritance pattern. Males are more frequently affected than females, and the chance of passing on an X-linked dominant disorder differs between men and women. The sons of a man with an X-linked dominant disorder will not be affected, and his daughters will all inherit the condition. A woman with an X-linked dominant disorder has a 50% chance of having an affected daughter or son with each pregnancy. Some X-linked dominant conditions, such as [[Aicardi Syndrome]], are fatal to boys, therefore only girls have them (and boys with [[Klinefelter Syndrome]]).  
|[[Hypophosphatemia]], [[Aicardi Syndrome]], [[Chokenflok Syndrome]]
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|[[Hypophosphatemia]], [[Aicardi Syndrome]], Chokenflok Syndrome
 
|-
 
|-
 
|[[X-linked recessive]]  
 
|[[X-linked recessive]]  
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* [[cancers]]
 
* [[cancers]]
 
* [[cleft palate]]
 
* [[cleft palate]]
* [[Intelligence quotient|low IQ]]
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* [[Mental retardation]]
  
 
==References==
 
==References==
 
{{reflist|2}}
 
{{reflist|2}}
'''CHROMOSONAL ABERRATIONS AND ASSOCAITED DISEASES.'''
 
Chromosome abnormalities are the leading known cause of mental retardation and miscarriage. Estimate indicate that a major chromosome aberration occurs in at least 1 in 12 conceptions. Most of these fetuses do not survive to term; in fact, about 50% of all recovered first-trimester spontaneous abotuses have a major chromosome aberrations. The number of live births affected by these abnormalities is significant; about 1 in 150 has a major diagnosable chromosome abnormality.
 
 
'''POLYPLOIDY.'''
 
Cells that have multiple of the normal number of chromosome are said to be '''Euploid cells''' ( Greek ''eu'' = good or true). Because normal gametes are haploid and most normal somatic cells are diploid, they are both euploid forms. When a euploid cell has more than the diploid number of chromosomes, it is said to be polyploid cell.
 
 
'''ANEUPLOIDY'''
 
A somatic cell that does not contian multiple of 23 chromoses is an '''aneuploid cell'''. A cell containing 3 copies of chromose is said to be trisomic ( a condition termed '''trisomy''')and is aneuploid. '''Monosomy''', the presence of only one copy of a given chromosome in a diploid cell, is the other common form of aneuploid.
 
  
 
== See also ==
 
== See also ==
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* [http://www.wellcome.ac.uk/en/genome/genesandbody/gb_genesanddisease.html Genes and Disease] from the [[Wellcome Trust]]
 
* [http://www.wellcome.ac.uk/en/genome/genesandbody/gb_genesanddisease.html Genes and Disease] from the [[Wellcome Trust]]
 
* [http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?db=OMIM OMIM - Online Mendelian Inheritance in Man, a catalog of human genes and genetic disorders]
 
* [http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?db=OMIM OMIM - Online Mendelian Inheritance in Man, a catalog of human genes and genetic disorders]
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[[Category:Genetics]]
 
[[Category:Genetics]]
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[[sv:Genetisk sjukdom]]
 
[[sv:Genetisk sjukdom]]
 
[[zh:遺傳性疾病]]
 
[[zh:遺傳性疾病]]
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[[sr:наследне болести]]
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{{WH}}
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{{WS}}

Latest revision as of 17:49, 4 September 2012

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List of terms related to Genetic disorder

Editor-In-Chief: C. Michael Gibson, M.S., M.D. [2]


Overview

A genetic disorder is a condition caused by abnormalities in genes or chromosomes. While some diseases, such as cancer, are due to genetic abnormalities acquired in a few cells during life, the term "genetic disease" most commonly refers to diseases present in all cells of the body and present since conception. Some genetic disorders are caused by chromosomal abnormalities due to errors in meiosis, the process which produces reproductive cells such as sperm and eggs. Examples include Down syndrome (extra chromosome 21), Turner Syndrome (45X0) and Klinefelter's syndrome (a male with 2 X chromosomes). Other genetic changes may occur during the production of germ cells by the parent. One example is the triplet expansion repeat mutations which can cause fragile X syndrome or Huntington's disease. Defective genes may also be inherited intact from the parents. In this case, the genetic disorder is known as a hereditary disease. This can often happen unexpectedly when two healthy carriers of a defective recessive gene reproduce, but can also happen when the defective gene is dominant.

Currently about 4,000 genetic disorders are known, with more being discovered. Most disorders are quite rare and affect one person in every several thousands or millions. Cystic fibrosis is one of the most common genetic disorders; around 5% of the population of the United States carry at least one copy of the defective gene. Some types of recessive gene disorder confer an advantage in the heterozygous state in certain environments. [1]

Genetic diseases are typically diagnosed and treated by geneticists. Genetic counselors assist the physicians and directly counsel patients. The study of genetic diseases is a scientific discipline whose theoretical underpinning is based on population genetics.

Single gene disorders

Where genetic disorders are the result of a single mutated gene they can be passed on to subsequent generations in the ways outlined in the table below. Genomic imprinting and uniparental disomy, however, may affect inheritance patterns. The divisions between recessive and dominant are not "hard and fast" although the divisions between autosomal and X-linked are (related to the position of the gene). For example, achondroplasia is typically considered a dominant disorder, but children with two genes for achondroplasia have a severe skeletal disorder that achondroplasics could be viewed as carriers of. Sickle-cell anemia is also considered a recessive condition, but carriers that have it by half along with the normal gene have increased immunity to malaria in early childhood, which could be described as a related dominant condition.

Inheritance pattern Description Examples
Autosomal dominant Only one mutated copy of the gene will be necessary for a person to be affected by an autosomal dominant disorder. Each affected person usually has one affected parent. There is a 50% chance that a child will inherit the mutated gene. Conditions that are autosomal dominant have low penetrance, which means that, although only one mutated copy is needed, a relatively small proportion of those who inherit that mutation go on to develop the disease, often later in life. Huntington's disease, Neurofibromatosis 1, Marfan Syndrome, Hereditary nonpolyposis colorectal cancer

Hereditary multiple exostosesis high penetrance autosomal dominant disorder

Autosomal recessive Two copies of the gene must be mutated for a person to be affected by an autosomal recessive disorder. An affected person usually has unaffected parents who each carry a single copy of the mutated gene (and are referred to as carriers). Two unaffected people who each carry one copy of the mutated gene have a 25% chance with each pregnancy of having a child affected by the disorder. Cystic fibrosis, Sickle cell anemia(Also Partial Sickle Cell Anemia), Tay-Sachs disease, Spinal muscular atrophy, Dry (otherwise known as "rice-brand") earwax[2]
X-linked dominant trait X-linked dominant disorders are caused by mutations in genes on the X chromosome. Only a few disorders have this inheritance pattern. Males are more frequently affected than females, and the chance of passing on an X-linked dominant disorder differs between men and women. The sons of a man with an X-linked dominant disorder will not be affected, and his daughters will all inherit the condition. A woman with an X-linked dominant disorder has a 50% chance of having an affected daughter or son with each pregnancy. Some X-linked dominant conditions, such as Aicardi Syndrome, are fatal to boys, therefore only girls have them (and boys with Klinefelter Syndrome). Hypophosphatemia, Aicardi Syndrome, Chokenflok Syndrome
X-linked recessive X-linked recessive disorders are also caused by mutations in genes on the X chromosome. Males are more frequently affected than females, and the chance of passing on the disorder differs between men and women. The sons of a man with an X-linked recessive disorder will not be affected, and his daughters will carry one copy of the mutated gene. With each pregnancy, a woman who carries an X-linked recessive disorder has a 50% chance of having sons who are affected and a 50% chance of having daughters who carry one copy of the mutated gene. Hemophilia A, Duchenne muscular dystrophy, Color blindness, Muscular dystrophy Androgenetic alopecia
Y-linked Y-linked disorders are caused by mutations on the Y chromosome. Only males can get them, and all of the sons of an affected father are affected. Since the Y chromosome is very small, Y-linked disorders only cause infertility, and may be circumvented with the help of some fertility treatments. Male Infertility
Mitochondrial This type of inheritance, also known as maternal inheritance, applies to genes in mitochondrial DNA. Because only egg cells contribute mitochondria to the developing embryo, only females can pass on mitochondrial conditions to their children.

See Human mitochondrial genetics

Leber's Hereditary Optic Neuropathy (LHON)

Multifactorial and polygenic disorders

Genetic disorders may also be complex, multifactorial or polygenic, this means that they are likely associated with the effects of multiple genes in combination with lifestyle and environmental factors. Multifactoral disorders include heart disease and diabetes. Although complex disorders often cluster in families, they do not have a clear-cut pattern of inheritance. This makes it difficult to determine a person’s risk of inheriting or passing on these disorders. Complex disorders are also difficult to study and treat because the specific factors that cause most of these disorders have not yet been identified.

On a pedigree, polygenic diseases do tend to “run in families”, but the inheritance does not fit simple patterns as with Mendelian diseases. But this does not mean that the genes cannot eventually be located and studied. There is also a strong environmental component to many of them (e.g., blood pressure).

References

  1. WGBH Educational Foundation[1]
  2. Wade, Nicholas (2006). "Japanese Scientists Identify Ear Wax Gene". New York Times. Unknown parameter |month= ignored (help); Unknown parameter |day= ignored (help)

See also

External links

ar:مرض وراثي cs:Genetická choroba de:Erbkrankheit fi:perinnöllinen sairaus ko:유전병 id:Penyakit genetik he:פגם גנטי lt:Genetinė liga hu:Genetikai betegség nl:Erfelijke aandoening simple:Hereditary disease su:Cacad genetik sv:Genetisk sjukdom sr:наследне болести



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