Alexandria Andrean Albinism
BIO 240 Section 02 Spring 2014
Prof. Dr. A.M. Jimenez
Albinism is a genetically linked disease and is presented at birth; it is characterized as a lack of pigment called melanin that normally gives color to a person’s skin, hair and eyes. This results in milky white hair and skin, and blue- gray eyes. Melanin is synthesized from amino acid called tyrosine, which originates from the enzyme tyrosinase. Albinism affects all races and both sexes; people with this disease have inherited a recessive, nonfunctional tyrosinase allele from both parents (Saladin 189). The inheritance of Albinism is coded in the gene of the parent’s alleles. Alleles are two different versions of the same gene or trait and are found on the same place of a chromosome. One allele is coded for the production of melanin that will produce normal skin, hair and eye color and another allele that represent the lack of melanin that produces abnormal skin, hair and eyes.
There are two types of Albinism; the fist type is called (OCA) which is the most common type. People with this albinism have light blue- gray eyes, very light skin, and hair. The second type of albinism is ocular albinism (OA), which is less common because it is less noticeable. People with (OA) have slightly lighter eyes, skin and resemble their family members features like the color of their skin and hair. People that have oculocutaneous albinism (OCA) have an autonomic recessive chromosome that is a disorder that has two copies of the abnormal gene and is presented in o...
... middle of paper ...
...m can have a very long life expectancy.
If one wanted to know their chance of carrying or having the disease creating a punnet square could help determine that. A normal person without Albinism or the presence of the allele melanin can be represented by capital “A” and another allele that represents the lack of melanin will be represented with lower case “a”. Since Albinism is an autonomic recessive disease, this means a person with a homozygous recessive gene will have the disease. Both parents must be heterozygous dominant and carry the allele; they will have a 25% chance of having a child with albinism and a 70% chance of having a child carrying the disease. If one parent is heterozygous that still carries the flawed gene and the other parent is homozygous dominant there will be a 50% chance their child will carry the disease but wont have a child with Albinism.
In the book it says "They can spend a whole lifetime worrying whether they 're carriers, and then we come along and offer them a test. Recessives and X-linked. Look what they 're doing with fragile-X nowadays. And cystic fibrosis. Just imagine the commercial possibilities if you can design and patent a probe for something like Gaucher 's disease...(69)" Recessive traits is the phenotype is seen only a homozygous recessive genotype for the traits of the interest is present. The booked talked about two of three diseases that are most common in the Ashkenazi Jewish population. The first one is Cystic fibrosis which is an inherited life-threatening disorder that effects the lungs and the digestive system. The other one mention in the book that wasn’t mention in class was Gaucher 's disease. Gaucher 's disease is a build up of fatty substances in your organs, usually in you spleen and liver. Which causes them to become bigger affecting their function. The last one that we learned in class was Tay-Sachs disease, which is a rare inherited disorder that destroys nerve cells in the brain and spinal
Ivy is the third generation in her family to be affected by achondroplasia. Her grandfather, her father, and her brother also have it. Achondroplasia is inherited as an autosomal dominant trait whereby only a single copy of the abnormal gene is required to cause achondroplasia. Nobody with the mutated gene can escape having achondroplasia. Many individuals with achondroplasia have normal parents, though. In this case, the genetic disorder would be caused by a de novo gene mutation. De novo gene mutations are associated with advanced paternal age, often defined as over age 35 years. If an individual with achondroplasia produce offspring with a normal individual, the chances of the offspring inheriting the mutant allele achondroplasia is 50%. If both of the parents have achondroplasia, the chances that their offspring will be of normal stature a...
Xeroderma Pigmentosum is a genetic disorder caused by a mutation in one of any seven genes. This genetic mutation is an autosomal recessive trait. This disease was discovered in 1874 by Hebra and Kaposi. People with this disease cannot have direct exposure to sunlight, or blisters on the skin may occur. There are only about 250 people in the world with this disease.
An individual can be homozygous dominant (two dominant alleles, AA), homozygous recessive (two recessive alleles, aa), or heterozygous (one dominant and one recessive allele, Aa). There were two particular crosses that took place in this experiment. The first cross-performed was Ebony Bodies versus Vestigle Wings, where Long wings are dominant over short wings and normal bodies are dominant over black bodies. The other cross that was performed was White versus Wild where red eyes in fruit flies are dominant over white eyes. The purpose of the first experiment, Ebony vs. Vestigle was to see how many of the offspring had normal bodies and normal wings, normal bodies and vestigle wings, ebony bodies and normal wings, and ebony body and vestigle wings.
Albinism is a genetic condition present at birth, characterized by a small amount of melanin pigment in the skin, hair and eye. Albinism is an occasional inborn sickness related with vision difficult, which affect one in seventeen thousand persons. It is not a contagious disease and cannot be spread over contact. Albinism affects individuals from all races. Most folks with albinism have parents with a normal color of skin. Some may not even recognize that they are Albino until later on in their life. This paper will be based on the study of albinism, causes, types, the genetic transmission and some possible medical problem.
Albinism is a genetic disorder that is caused by the lack of pigments. Sometimes it only affects the eye which is called ocular albinism. You can receive albinism from your genetics. You can be an albino in your eyes, skin or hair. It affects people of all races and all around the world. Studies show one in 20,000 people worldwide have some form of albinism. Certain forms of albinism are more common in some populations. Most common form of albinism is OCAZ and is found in one in 36, 0000 Caucasians in the United States. There are four types of albinism; type 1 is characterized by white hair, very pale skin, and light colored eyes. Type 2 is less severe their skin is usually a creamy white color and their hair could be a light yellow, blonde or light brown. Type 3 has a form of albinism called “rufous oculocutaneous albinism” this usually affects dark-skinned people. They have reddish-brown skin, ginger or red hair and hazel or brown eyes. Type 3 has milder vision problems. Type 4 has the same symptoms similar to type 2. Types 1 and 2 are the most common forms; types 3 and 4 are not as common.
Throughout society today, colorism and racism play a huge role in many lives. Though the similarities between the two may confused individuals, there happens to be a difference between colorism and racism. Racism is the belief that all members of each race processes certain characteristics or abilities specific to that race. Gloria Yamato says, “Racism is persuasive to the point that we take most of its manifestations for granted believing, “That’s Life” (Yamato 65). Racism can vary seeing as though you could be a specific type of racist. The four different types of racism that exist today are the “aware/blatant, the aware/covert, the unaware/unintentional, and lastly the unaware/self-righteous” (Yamato 66). Colorism is prejudice and discrimination against individuals with a darker skin tone. Colorism typically happens between individuals of the same ethnic and racial groups. In society today, colorism exists due to the accumulated experiences of racism, “which can generate questions and doubts in the minds of people of color about their place in a predominately white society” (Osajima141).
...be also highly affected in people with albinism. Usually people with albinism wait until the sunsets to go outside to do some of these activities. Some individuals with albinism have problems with emotional regulation skills which is mainly affected by the way society react to their looks.
The most common forms of the differing Thalassemias are Alpha-Thalassemia and Beta-Thalassemia. Thalassemia is also commonly known by Cooley's anemia and Mediterranean anemia. Alpha Thalassemia is when genes related to the alpha globin protein are altered or missing, which is known as gene mutation. Alpha Thalassemia is primarily dominant in people from Africa, Middle East, Southeast Asia, and China. Alpha Thalassemia has 5 subtypes while Beta Thalassemia has 3 main subtypes. Beta Thalassemia exists when defected genes alter production of the beta globin protein. Beta Thalassemia is prominent in people from the Mediterranean region, Italy, Middle East, Greece, Southeast Asia, Africa, and Southern China. However, Alpha and Beta Thalassemia both have a major and minor form of...
middle of paper ... ... avour of "purity of the race" idea, but they understand how it worked. Blond hair and blue eyes are recessive genes. Two brown-eyed people can give birth to a blue-eyed child, but two blue-eyed people cannot give birth to a brown-eyed child. Dark skin and dark hair are also dominant genes, so because of evolution, it must mean that the ancestors of humanity had dominant genes.
Colorism has became a huge issue in today’s society. Colorism is an issue because, it is a form of racism, it reflects back on the days of slavery, it is overall rude, and jail terms are affected.
Atomic Blonde is a fast-paced, female-led action spy thriller that brings audiences into the world of the late Cold War with double-crossing, and heart-racing action scenes. With its reliance on visual aesthetics, neon lights, and a quintessential 1980’s soundtrack, it has all the makings for a glitzy box office winner, a title it claimed in summer 2017. Though, the movie also details the political, social and cultural turmoil of the time. From subtle news reports broadcasted on TV in the background, to scenes featuring protests, Atomic Blonde embodies the close of the Cold War with production choices and content.
Albinism is a very serious disease that could end up in death. Albinism is a recessive inherited defect in melanin, which is metabolism in which pigment is absent from skin, hair, and eyes. Albinism in hair, skin, and eyes is called oculocutaneous albinism. Humans that have oculocotaneous albinism are not able to produce melanin. These people have white, yellow, or yellow brown hair, very light ( usually blue ) eyes, and very pale skin. Their eyes may appear pink because they have very little pigment.
This type of inheritance is called autosomal recessive inheritance. If a parent has a child with albinism, it means the parent must carry the albinism gene. Until recently, unless a person has albinism or has a child with albinism, there was no way of knowing whether he or she carries the gene for albinism. Recently, a test has been developed to identify carriers of the gene for ty-negative albinism and for other types in which the tyrosinase enzyme does not function. The test uses a sample of blood to identify the gene for the tryrosinase enzyme by its DNA code. A similar test can identify type-negative or similar albinism in unborn babies, by aminiocentesis.
The second one is beta thalassemia. This occurs when similar gene defects affect production of the beta globin protein. It happens mostly in people of Mediterranean origin, Chinese, other Asians, and African Americans. You need both alpha- and beta-globin to make hemoglobin. If you have one damaged gene, you may have mild anemia and probably won't need treatment. This is called beta thalassemia minor or beta thalassemia trait. It happens when you get a normal gene from one parent and a thalassemia gene from the other. When both genes are damaged, it means you got a thalassemia gene from each parent. You may have moderate or severe anemia. If you have moderate anemia, you may n...