Neuro genetic disorder characterized by intellectual and developmental disability sleep disturbance, jerky movements and frequent laughter or smiling. AS is classic example of genomic imprinting that is caused by deletion or inactivation of genes on the inherited chromosome 15. AS is named after a British pediatrician, Dr Harry Angelman. Angelman described the syndrome in 1965, happy puppet syndrome(considered pejorative and stigmatizing so is no longer the accepted term). <1>
Angelman syndrome affects an estimated 1 in 12,000 to 20,000 people Characteristic feature of Angelman syndrome result from the loss of function of gene called UBE3A. Normally people inherit one copy of the UBE3A gene from each parent; both copies of this gene are active in many of the body’s tissues. However, in certain side of the brain, only the copy inherited from a person’s mother is active. This parent’s specific gene activation is caused by a phenomenon called genomic imprinting. Copy of UBE3A gene is lost because of a chromosomal change or mutation; people will have no active copies of the gene in some part of brain. Lucky, most cases of Angelman syndrome are not inherited. <2>
Sources: <1> http://en.wikipedia.org/wiki/Angelman_syndrome / From Wikipedia, the free encyclopedia/ 8 November 2013 at 08:42.
<2>http://ghr.nlm.nih.gov/condition/angelman-syndrome / November 12, 2013/ Angelman syndrome
“Rhesus (Rh) factor is an inherited trait that refers to a specific protein found on the surface of red blood cells.” Most commonly people are Rh positive which means that they have the protein, but some people don’t have the protein and are Rh negative. Rh cannot influence a person’s health but it may influence pregnancy if the mother of the bay is negative and the father is positive. A simple blood test is done to figure out if someone is Rh positive or negative. [Mayo Clinic Staff; June 16th 2012]1. The Rh test is done, as mentioned before, during pregnancy to figure out the Rh factor of the mother and, if necessary, the father. If the mother is Rh negative and the bay is Rh positive, the baby’s blood might mix into the mother’s, and seeing it as a foreign body the mother will attack the baby, killing it. To prevent this a shot is given to the mother. The shot is given before the mother starts to produce antibodies, and it injects the mom with Rh immune globulin, which prevents the mother’s body to Rh antibodies during pregnancy. [Mayo Clinic Staff; June 16th 2012]2.
The mother (if Rh negative) also get the shot of Rh immune globulin, after any contact with Rh positive, like miscarriage.
Eye Color We have been taught that genes are responsible for most of our characteristics. For instance, eye color. “Eye was traditionally described as a single gene trait” this means that eye color was thought to be inherited through one gene only. The allele for brown eyes is dominant over the allele for blue eyes. Recently, scientists discovered that “at least eight genes influence the final color of eyes”. These genes are what control the melanin* inside cells of the iris. One of these genes, called OCA2, controls about ¾ of the brown-blue spectrum, though other genes can dominate over the OCA2, yet it is very rare. This explains most of the genetic factors that influence the eye’s color. (Hudson Alpha Institute for Biotechnology) Many people used to be taught that eye color was influenced by one gene, yet it has been proven that it is influenced by more than one gene, and many of these genes involved also influence hair and skin color. Scientists have discovered over 150 different genes that influence skin, hair and eye coloring. Eye color is influenced by the amount of light that reflects off the iris*. The color of the eye depends on the levels of melanin pigment stored in the iris. Blue eyes contain minimum amounts of pigment, green-hazel eyes contain moderate amounts of pigments and brown eyes contain high melanin levels. (Hudson Alpha Institute for Biotechnology) Eye color depends on several genes. Eight genes have been identified to influence the eye color. A gene located on chromosome 15 influences ¾ of the eye color (OCA2). (*Iris: muscular structure that controls how much light enters the eye.) (*Melanin: the primary determinant of skin color, also found in hair and eyes” News Medical). http://www.news-medical.net/health/Melanin-What-is-Melanin.aspx http://www.hudsonalpha.org/education/outreach/basics/eye-color http://www.sciencedaily.com/releases/2010/05/100506172731.htm http://www.plosgenetics.org/article/info%3Adoi%2F10.1371%2Fjournal.pgen.1000934
Are emotional characteristics hereditary? This question is what I decided to work on for the free topic blog. While surfing on Internet, I found an article that said “There is a gene that causes humans to be negative”. This article was from a study done by researchers in University of British Columbia on October 10,2013. "This is the first study to find that this genetic variation can significantly affect how people see and experience the world," says Prof. Rebecca Todd of UBC's Dept. of Psychology. From now, all human experience of emotions can be seen as biological system instead of feelings. The gene’s name is ADRA2b deletion variant and it influences hormone and the neurotransmitter. Till this discovery, ADRA2b was said to have a role on formation of emotional memories. The discovery shows that the ADRA2b deletion variant can also interfere with real time perception. In the experiment, 200 participants, which included some with ADRA2b deletion variant, were shown positive, neutral, and negative words. Both the participants with and without the ADRA2b deletion variant perceived positive words more than neutral words at the equal level but the participants with ADRA2b deletion variant perceived negative words more than the group without ADRA2b deletion variant. From this discovery, we can understand the difference of cultural personalities and the related characteristics within the family as well by checking the genes.
Hemophilia Hemophilia is a medical condition where the blood does not clot, leading to severe bleeding. This condition is sex-linked towards males. Meaning that males are the most likely to obtain this illness over females in this case. Females will most likely only be carriers of the illness. [N/A, July 31, 2013]1 The condition of hemophilia is a lack in a blood clotting factor known as VIII. VIII is also known as F8, which is a gene located on the X chromosome on the base pair 154,064,062 to 154,255,350. F8 is responsible for making a protein known as coagulation factor VIII. A group of these proteins is in control for clotting blood, along with Von Willebrand factor. They are connected together in an inactive state in the bloodstream until an injury occurs. Then these two factors create chemical reactions that clot blood. If a person contains a mutated F8 gene (meaning the F8 gene is changed in some way), then they will continually bleed out, even if they only contain a small injury, without medical help. [N/A, November 25, 2013]2 There are known treatments for hemophilia A and B. The most common type of treatment is known as replacement therapy. This is where clotting factor VIII (for hemophilia A people) or clotting factor IX (for hemophilia B people) are dripped or injected into a vein. What this does is gives the people the ability to be able to clot blood; something they once could not do. On the other hand, there are a few problems of using replacement therapy. These problems consist of: 1. developing antibodies to the clotting factor VIII or IX. 2. developing viral infections. 3. damage to joints, muscles, or other parts of the body resulting from delays in treatment. [N/A, July 31, 2013]
It was previously believed that a single gene was responsible for determining the eye color of a human being. Scientists now know about over one hundred genes that influence pigmentation, including eye color, along with skin and hair color. (The Genetics of Eye Color, Hudson Alpha Institute For Biotechnology) This is because the pigmentation of these body parts is determined by the amount of a protein called melanin inside their cells. (The Genetics of Eye Color, sewannee.edu) Certain genes influence the distribution of melanin in the body. To this day, 8 genes have been identified to influence eye color. (The Genetics of Eye Color, Hudson Alpha Institute For Biotechnology) The more melanin inside eye cells, the darker they appear when they reflect the light of the sun. (The Genetics of Eye Color, Hudson Alpha Institute For Biotechnology) Brown eyes have high melanin levels, green or hazel eyes have moderate levels, and blue or grey eyes have low levels. (The Genetics of Eye Color, Hudson Alpha Institute For Biotechnology)The genes for darker eye colors are usually more dominant, while those for light colors are recessive. (The Genetics of Eye Color, Hudson Alpha Institute For Biotechnology) Brown is the predominant eye color; it is believed the mutations for lighter eyes occurred in Europe some 10,000 years ago. ( The Genetics of Eye Color, EyeDoctorGuide.com) Sources 1. http://www.sewanee.edu/chem/Chem%26Art/Detail_Pages/ColorProjects_2003/Guttery/index.htm 2. http://www.hudsonalpha.org/education/outreach/basics/eye-color 3. http://www.eyedoctorguide.com/eye_general/eye_color_genetics.html
Height is a trait that has been researched for many years, but scientists have not been able to find any specific genes that related solely to height. In fact there are thought to be around 20 genes that relate to height. But unlike eye color or other traits that are directly connected to your DNA, your environment affects height more than many other traits in your genetic makeup. (The Tech, 2013) Source#1 For example, in Japan the national height has risen from under that of Northern Europeans until it is about the same after a number of years. The reason for this was that the current generation has received more protein in their diet compared to their ancestors and can now take full advantage of the genetics they possess. (The Tech, 2013) Source#1 One of the main ways in which they are researching the effect of environment on height in comparison to the DNA is by studying twins, both fraternal and identical. Since identical twins have the same DNA it is easier to see the effect of their different environments. Likewise it helps to study fraternal twins because there are pretty much no other humans that share the most similar environment, both during birth and childhood, while still having his/her own DNA. Studying identical twins helps identify environmental changes and effects while studying fraternal twins compares the actual DNA and genes for height while eliminating the environmental factor, or at least as nearly as possible. (The Tech, 2013) Source#1 The chromosomes though to be responsible for height are chromosomes 7, 8, 20, and the X-chromosome. One possible explanation for why males are taller than females could have to do with testosterone, maybe that affects it, but we have no way of knowing because there still hasn’t been any evidence to suggest there is any difference in where height traits are stored on males or females. Or even why they are different. (The Tech, 2013) Source#1 In other words, height is a very researched area, lots of information has been revealed and we know much more now than we did before. But we still don’t know what genes cause height, the characteristics or changing height, or how it is passed on to offspring.
Sources: 1. “Height Hopes- A new study identifies possible height genes”, The Tech- museum of innovation, Web, December 3, 2013. http://genetics.thetech.org/original_news/news60 2. “Human Height”, Wikipedia, Web, December 3, 2013 http://en.wikipedia.org/wiki/Human_height
Angelman Syndrome (AS)
ReplyDeleteNeuro genetic disorder characterized by intellectual and developmental disability sleep disturbance, jerky movements and frequent laughter or smiling. AS is classic example of genomic imprinting that is caused by deletion or inactivation of genes on the inherited chromosome 15. AS is named after a British pediatrician, Dr Harry Angelman. Angelman described the syndrome in 1965, happy puppet syndrome(considered pejorative and stigmatizing so is no longer the accepted term). <1>
Angelman syndrome affects an estimated 1 in 12,000 to 20,000 people Characteristic feature of Angelman syndrome result from the loss of function of gene called UBE3A. Normally people inherit one copy of the UBE3A gene from each parent; both copies of this gene are active in many of the body’s tissues. However, in certain side of the brain, only the copy inherited from a person’s mother is active. This parent’s specific gene activation is caused by a phenomenon called genomic imprinting. Copy of UBE3A gene is lost because of a chromosomal change or mutation; people will have no active copies of the gene in some part of brain. Lucky, most cases of Angelman syndrome are not inherited. <2>
Sources:
<1> http://en.wikipedia.org/wiki/Angelman_syndrome / From Wikipedia, the free encyclopedia/ 8 November 2013 at 08:42.
<2>http://ghr.nlm.nih.gov/condition/angelman-syndrome / November 12, 2013/ Angelman syndrome
Rh factor Blog
ReplyDelete“Rhesus (Rh) factor is an inherited trait that refers to a specific protein found on the surface of red blood cells.” Most commonly people are Rh positive which means that they have the protein, but some people don’t have the protein and are Rh negative. Rh cannot influence a person’s health but it may influence pregnancy if the mother of the bay is negative and the father is positive. A simple blood test is done to figure out if someone is Rh positive or negative. [Mayo Clinic Staff; June 16th 2012]1.
The Rh test is done, as mentioned before, during pregnancy to figure out the Rh factor of the mother and, if necessary, the father. If the mother is Rh negative and the bay is Rh positive, the baby’s blood might mix into the mother’s, and seeing it as a foreign body the mother will attack the baby, killing it. To prevent this a shot is given to the mother. The shot is given before the mother starts to produce antibodies, and it injects the mom with Rh immune globulin, which prevents the mother’s body to Rh antibodies during pregnancy. [Mayo Clinic Staff; June 16th 2012]2.
The mother (if Rh negative) also get the shot of Rh immune globulin, after any contact with Rh positive, like miscarriage.
Bibliography
1. http://www.mayoclinic.com/health/rh-factor/MY01163
2. http://www.mayoclinic.com/health/rh-factor/MY01163/DSECTION=why-its-done
Eye Color
ReplyDeleteWe have been taught that genes are responsible for most of our characteristics. For instance, eye color. “Eye was traditionally described as a single gene trait” this means that eye color was thought to be inherited through one gene only. The allele for brown eyes is dominant over the allele for blue eyes. Recently, scientists discovered that “at least eight genes influence the final color of eyes”. These genes are what control the melanin* inside cells of the iris. One of these genes, called OCA2, controls about ¾ of the brown-blue spectrum, though other genes can dominate over the OCA2, yet it is very rare. This explains most of the genetic factors that influence the eye’s color. (Hudson Alpha Institute for Biotechnology)
Many people used to be taught that eye color was influenced by one gene, yet it has been proven that it is influenced by more than one gene, and many of these genes involved also influence hair and skin color. Scientists have discovered over 150 different genes that influence skin, hair and eye coloring. Eye color is influenced by the amount of light that reflects off the iris*. The color of the eye depends on the levels of melanin pigment stored in the iris. Blue eyes contain minimum amounts of pigment, green-hazel eyes contain moderate amounts of pigments and brown eyes contain high melanin levels. (Hudson Alpha Institute for Biotechnology)
Eye color depends on several genes. Eight genes have been identified to influence the eye color. A gene located on chromosome 15 influences ¾ of the eye color (OCA2).
(*Iris: muscular structure that controls how much light enters the eye.)
(*Melanin: the primary determinant of skin color, also found in hair and eyes” News Medical).
http://www.news-medical.net/health/Melanin-What-is-Melanin.aspx
http://www.hudsonalpha.org/education/outreach/basics/eye-color
http://www.sciencedaily.com/releases/2010/05/100506172731.htm
http://www.plosgenetics.org/article/info%3Adoi%2F10.1371%2Fjournal.pgen.1000934
Are emotional characteristics hereditary? This question is what I decided to work on for the free topic blog. While surfing on Internet, I found an article that said “There is a gene that causes humans to be negative”. This article was from a study done by researchers in University of British Columbia on October 10,2013. "This is the first study to find that this genetic variation can significantly affect how people see and experience the world," says Prof. Rebecca Todd of UBC's Dept. of Psychology. From now, all human experience of emotions can be seen as biological system instead of feelings. The gene’s name is ADRA2b deletion variant and it influences hormone and the neurotransmitter. Till this discovery, ADRA2b was said to have a role on formation of emotional memories. The discovery shows that the ADRA2b deletion variant can also interfere with real time perception. In the experiment, 200 participants, which included some with ADRA2b deletion variant, were shown positive, neutral, and negative words. Both the participants with and without the ADRA2b deletion variant perceived positive words more than neutral words at the equal level but the participants with ADRA2b deletion variant perceived negative words more than the group without ADRA2b deletion variant. From this discovery, we can understand the difference of cultural personalities and the related characteristics within the family as well by checking the genes.
ReplyDeletehttp://www.sciencedaily.com/releases/2013/10/131010105039.htm
Hemophilia
ReplyDeleteHemophilia is a medical condition where the blood does not clot, leading to severe bleeding. This condition is sex-linked towards males. Meaning that males are the most likely to obtain this illness over females in this case. Females will most likely only be carriers of the illness. [N/A, July 31, 2013]1
The condition of hemophilia is a lack in a blood clotting factor known as VIII. VIII is also known as F8, which is a gene located on the X chromosome on the base pair 154,064,062 to 154,255,350. F8 is responsible for making a protein known as coagulation factor VIII. A group of these proteins is in control for clotting blood, along with Von Willebrand factor. They are connected together in an inactive state in the bloodstream until an injury occurs. Then these two factors create chemical reactions that clot blood. If a person contains a mutated F8 gene (meaning the F8 gene is changed in some way), then they will continually bleed out, even if they only contain a small injury, without medical help. [N/A, November 25, 2013]2
There are known treatments for hemophilia A and B. The most common type of treatment is known as replacement therapy. This is where clotting factor VIII (for hemophilia A people) or clotting factor IX (for hemophilia B people) are dripped or injected into a vein. What this does is gives the people the ability to be able to clot blood; something they once could not do. On the other hand, there are a few problems of using replacement therapy. These problems consist of:
1. developing antibodies to the clotting factor VIII or IX.
2. developing viral infections.
3. damage to joints, muscles, or other parts of the body resulting from delays in treatment. [N/A, July 31, 2013]
Sites Used:
1. "What Causes Hemophilia?" - NHLBI, NIH. N.p., n.d. Web. 29 Nov. 2013. .
2. "F8." - Coagulation Factor VIII, Procoagulant Component. N.p., n.d. Web. 01 Dec. 2013. .
3. "How Is Hemophilia Treated?" - NHLBI, NIH. N.p., n.d. Web. 29 Nov. 2013. .
It was previously believed that a single gene was responsible for determining the eye color of a human being. Scientists now know about over one hundred genes that influence pigmentation, including eye color, along with skin and hair color. (The Genetics of Eye Color, Hudson Alpha Institute For Biotechnology) This is because the pigmentation of these body parts is determined by the amount of a protein called melanin inside their cells. (The Genetics of Eye Color, sewannee.edu) Certain genes influence the distribution of melanin in the body. To this day, 8 genes have been identified to influence eye color. (The Genetics of Eye Color, Hudson Alpha Institute For Biotechnology) The more melanin inside eye cells, the darker they appear when they reflect the light of the sun. (The Genetics of Eye Color, Hudson Alpha Institute For Biotechnology) Brown eyes have high melanin levels, green or hazel eyes have moderate levels, and blue or grey eyes have low levels. (The Genetics of Eye Color, Hudson Alpha Institute For Biotechnology)The genes for darker eye colors are usually more dominant, while those for light colors are recessive. (The Genetics of Eye Color, Hudson Alpha Institute For Biotechnology) Brown is the predominant eye color; it is believed the mutations for lighter eyes occurred in Europe some 10,000 years ago. ( The Genetics of Eye Color, EyeDoctorGuide.com)
ReplyDeleteSources
1. http://www.sewanee.edu/chem/Chem%26Art/Detail_Pages/ColorProjects_2003/Guttery/index.htm
2. http://www.hudsonalpha.org/education/outreach/basics/eye-color
3. http://www.eyedoctorguide.com/eye_general/eye_color_genetics.html
Height Genes
ReplyDeleteHeight is a trait that has been researched for many years, but scientists have not been able to find any specific genes that related solely to height. In fact there are thought to be around 20 genes that relate to height. But unlike eye color or other traits that are directly connected to your DNA, your environment affects height more than many other traits in your genetic makeup. (The Tech, 2013) Source#1
For example, in Japan the national height has risen from under that of Northern Europeans until it is about the same after a number of years. The reason for this was that the current generation has received more protein in their diet compared to their ancestors and can now take full advantage of the genetics they possess. (The Tech, 2013) Source#1
One of the main ways in which they are researching the effect of environment on height in comparison to the DNA is by studying twins, both fraternal and identical. Since identical twins have the same DNA it is easier to see the effect of their different environments. Likewise it helps to study fraternal twins because there are pretty much no other humans that share the most similar environment, both during birth and childhood, while still having his/her own DNA. Studying identical twins helps identify environmental changes and effects while studying fraternal twins compares the actual DNA and genes for height while eliminating the environmental factor, or at least as nearly as possible. (The Tech, 2013) Source#1
The chromosomes though to be responsible for height are chromosomes 7, 8, 20, and the X-chromosome. One possible explanation for why males are taller than females could have to do with testosterone, maybe that affects it, but we have no way of knowing because there still hasn’t been any evidence to suggest there is any difference in where height traits are stored on males or females. Or even why they are different. (The Tech, 2013) Source#1
In other words, height is a very researched area, lots of information has been revealed and we know much more now than we did before. But we still don’t know what genes cause height, the characteristics or changing height, or how it is passed on to offspring.
Sources:
1. “Height Hopes- A new study identifies possible height genes”, The Tech- museum of innovation, Web, December 3, 2013. http://genetics.thetech.org/original_news/news60
2. “Human Height”, Wikipedia, Web, December 3, 2013 http://en.wikipedia.org/wiki/Human_height