Genetic Disorders


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Autosomal dominant conditions sometimes have reduced penetrance , which means although only one mutated copy is needed, not all individuals who inherit that mutation go on to develop the disease. Examples of this type of disorder are Huntington's disease , [13] neurofibromatosis type 1 , neurofibromatosis type 2 , Marfan syndrome , hereditary nonpolyposis colorectal cancer , hereditary multiple exostoses a highly penetrant autosomal dominant disorder , Tuberous sclerosis , Von Willebrand disease , and acute intermittent porphyria.

Birth defects are also called congenital anomalies. 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". Each parent with a defective gene normally do not have symptoms. Examples of this type of disorder are Albinism , Medium-chain acyl-CoA dehydrogenase deficiency , cystic fibrosis , sickle-cell disease , Tay—Sachs disease , Niemann-Pick disease , spinal muscular atrophy , and Roberts syndrome.

Certain other phenotypes, such as wet versus dry earwax , are also determined in an autosomal recessive fashion. X-linked dominant disorders are caused by mutations in genes on the X chromosome. Males and females are both affected in these disorders, with males typically being more severely affected than females. Some X-linked dominant conditions, such as Rett syndrome , incontinentia pigmenti type 2, and Aicardi syndrome , are usually fatal in males either in utero or shortly after birth, and are therefore predominantly seen in females.

Exceptions to this finding are extremely rare cases in which boys with Klinefelter syndrome 47,XXY also inherit an X-linked dominant condition and exhibit symptoms more similar to those of a female in terms of disease severity. 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 all be unaffected since they receive their father's Y chromosome , and his daughters will all inherit the condition. X-linked recessive conditions 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. X-linked recessive conditions include the serious diseases hemophilia A , Duchenne muscular dystrophy , and Lesch-Nyhan syndrome , as well as common and less serious conditions such as male pattern baldness and red-green color blindness.

X-linked recessive conditions can sometimes manifest in females due to skewed X-inactivation or monosomy X Turner syndrome. Y-linked disorders are caused by mutations on the Y chromosome genes linked on Y chromosome are Y linked genes and are confined to males and also called Holandric genes.

Problems in the control of genetic disorders.

These conditions may only be transmitted from the heterogametic sex e. More simply, this means that Y-linked disorders in humans can only be passed from men to their sons; females can never be affected because they do not possess Y-allosomes. Y-linked disorders are exceedingly rare but the most well-known examples typically cause infertility.

Reproduction in such conditions is only possible through the circumvention of infertility by medical intervention. This type of inheritance, also known as maternal inheritance, applies to genes encoded by mitochondrial DNA.

Because only egg cells contribute mitochondria to the developing embryo, only mothers can pass on mitochondrial DNA conditions to their children. An example of this type of disorder is Leber's hereditary optic neuropathy.


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It is important to stress that the vast majority of mitochondrial disease particularly when symptoms develop in early life is actually caused by an underlying nuclear gene defect, and most often follows autosomal recessive inheritance. Genetic disorders may also be complex, multifactorial, or polygenic, meaning they are likely associated with the effects of multiple genes in combination with lifestyles and environmental factors.

Multifactorial disorders include heart disease and diabetes. Although complex disorders often cluster in families, they do not have a clear-cut pattern of inheritance. Complex disorders are also difficult to study and treat, because the specific factors that cause most of these disorders have not yet been identified. Studies which aim to identify the cause of complex disorders can use several methodological approaches to determine genotype - phenotype associations.

Genetic Disorders

One method, the genotype-first approach , starts by identifying genetic variants within patients and then determining the associated clinical manifestations. This is opposed to the more traditional phenotype-first approach, and may identify causal factors that have previously been obscured by clinical heterogeneity , penetrance , and expressivity. 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. A chromosomal disorder is a missing, extra, or irregular portional of chromosomal DNA. It can be from an atypical number of chromosome or a structural abnormality in one or more chromosome.

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An example of these disorder is Trisomy 21 Down syndrome , in which there is an extra copy of chromosome Due to the wide range of genetic disorders that are known, diagnosis is widely varied and dependent of the disorder. Most genetic disorders are diagnosed at birth or during early childhood however some, such as Huntington's disease , can escape detection until the patient is well into adulthood. The basic aspects of a genetic disorder rests on the inheritance of genetic material.

With an in depth family history , it is possible to anticipate possible disorders in children which direct medical professionals to specific tests depending on the disorder and allow parents the chance to prepare for potential lifestyle changes, anticipate the possibility of stillbirth , or contemplate termination. Not all genetic disorders directly result in death; however, there are no known cures for genetic disorders.

Many genetic disorders affect stages of development, such as Down syndrome , while others result in purely physical symptoms such as muscular dystrophy. Other disorders, such as Huntington's disease , show no signs until adulthood. During the active time of a genetic disorder, patients mostly rely on maintaining or slowing the degradation of quality of life and maintain patient autonomy. This includes physical therapy , pain management , and may include a selection of alternative medicine programs.

The treatment of genetic disorders is an ongoing battle with over gene therapy clinical trials having been completed, are ongoing, or have been approved worldwide. Gene therapy refers to a form of treatment where a healthy gene is introduced to a patient. This should alleviate the defect caused by a faulty gene or slow the progression of disease. A major obstacle has been the delivery of genes to the appropriate cell, tissue, and organ affected by the disorder. How does one introduce a gene into the potentially trillions of cells which carry the defective copy? This question has been the roadblock between understanding the genetic disorder and correcting the genetic disorder.

From Wikipedia, the free encyclopedia. Disease that has material basis in genetic variations in the human genome. For a non-technical introduction to the topic, see Introduction to genetics. Main article: X-linked dominant. Main article: X-linked recessive inheritance.

Genetic Diseases: Categories – Genetics - Lecturio

Main article: Y linkage. Main article: Mitochondrial disease. See also: Chromosome abnormality. See also: Prenatal testing and Newborn screening. See also: Gene therapy. Retrieved Trends in Parasitology. Introduction to Genetic Analysis 10th ed. New York: W.

Freeman and Company. New York Times. March Philadelphia PA: Saunders. Baltimore: Johns Hopkins University Press. Genetic defects, diagnoses and treatments of the respective unifactorial and multifactorial genetic disorders are reviewed in the second and third Sections. Certainly, it is quite difficult or almost impossible to cure a genetic disorder fundamentally at the present time. However, our knowledge of genetic functions has rapidly accumulated since the double-stranded structure of DNA was discovered by Watson and Crick in Therefore, nowadays it is possible to understand the reasons why genetic disorders are caused.

It is probable that the knowledge of genetic disorders described in this book will lead to the discovery of an epoch of new medical treatment and relieve human beings from the genetic disorders of the future. By Kannan Thirumulu Ponnuraj. By Tangvarasittichai Surapon. Marshall and Ramona Mihaela Stoicescu. By Michael Sjoding and D. Kyle Hogarth.

What are single-gene changes?

By Manuel J. By Salil C. Datta, Shreedhara Gupta and Bikramjit Raychaudhury. By Maria Puiu and Natalia Cucu. This is made possible by the EU reverse charge method.

What are Genetic Disorders?

Edited by Dijana Plaseska-Karanfilska. Edited by Subrata Dey. Edited by Payam Behzadi. Edited by Bishnu Pal. Edited by Alexander Kokorin. Edited by Theophanides Theophile.

Genetic Disorders Genetic Disorders
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Genetic Disorders Genetic Disorders
Genetic Disorders Genetic Disorders

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