Albinism: Autosomal Recessive Disease

Sickle cell: One of the first inherited diseases to be unraveled at the level of DNA was sickle-cell anemia which is defined as abnormal, crescent-shaped red blood cells that results from a single change in the amino acid sequence of the cell's hemoglobin, which causes the cell to contort, especially under low-oxygen conditions. (medical dictionary, 2017) Also, called drepanocyte, meniscocyte. Also, this blood disorder mostly affects Africans and natives of the Mediterranean region are those who are affected by malaria. A single mutation in the gene for the blood protein hemoglobin can affect its ability to transport oxygen around the body. People who inherit two copies of the same mutation, one from each parent, have severe symptoms.

This happens when an affected parent has one recessive gene and one dominant gene whereas the other has two recessive genes, which allows two children to get two recessive genes meaning they will not be affected. Whereas the other two have one dominant gene meaning they will be affected by the disease.

AAT deficiency is caused by a genetic defect (gene mutation). The gene mutation is passed from parent to child (inherited). The disease typically develops only if a person inherits the defective gene from each parent.

The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.

Colour blindness can is often carries the mutated gene on the X chromosomes that it passed 50% of this over to the child, the mother may not have had colour blindness but it would most likely be carried on one of the X chromosomes, If the mother is the carrier and the father doesn’t have colour blindness there is a one in two chance that the son may have the disease while for the daughter there is a one in two chance that she would be the carrier of the disease and there being no chance in her getting it. (National Eye Institution, Accessed 22.08.2015). If both of the Parents are carriers that means that there is a one in four chance that the child would most likely have the disease, one in two that the child is a carrier of the disease or a one in four chance that the child isn’t a carrier of the disease and also doesn’t have the disease although it is most likely that one of the children would end up getting colour blindness if one of the parents happen to have it (National Eye Institution, Accessed

Which dominant means that it will show up in the offspring if one of the parents supplies that

Melanin, the major pigment responsible for skin, hair, and eye coloration, is synthesized in cytoplasmic organelles called melanosomes. Melanosomes are the cellular site of synthesis, storage and transport of melanin pigments, and are found in melanocyte cells. Mutations in genes responsible for the necessary melanocyte proteins to make melanin pigment result in a reduction or absence of melanin pigment, a condition known as oculocutaneous albinism. Oculocutaneous albinism type one (OCA1) is a genetic deficiency associated with 0-10% of normal melanin production in the skin, hair, and eyes. They’re two subtypes of OCA1, OCA1A and OCA1B. Individuals

Human genetics can play a major role in determining ones physical condition. One slight change in a genetic sequence can cause a disorder that can be life threating to the organism. Most of the genetic disorders are caused by recessive allele. In most cases this recessive allele is undetectable due to the disorder not being presented in the physical appearance. Hypercholesterolemia is an example of a human disorder controlled by a single gene. This human disorder causes high levels of cholesterol in an individual due to the absence of the low-density lipoproteins.

I am going to be discussing a skin disease called vitiligo. This skin disease occurs when one 's melanocytes, mature melanin-forming cells, are ruined. Vitiligo is a disease that is not hard to recognize and can be found at several spots on the body. The most common places to find this disease would be on the hands, feet, around the mouth and eyes, and even around the genitalia. With some skin diseases, melanocytes are destroyed, and the production of melanin, a dark brown to black pigment that is found in the skin and is the reasoning for skin color, is simply just slowed down. This results in hypopigmentation, which is the loss of skin color, but not a total loss. Other skin diseases, such as vitiligo, have a complete absence of melanin. The depigmented skin color of someone with this disease is similar to that of one who suffers from albinism.

Cystic Fibrosis (CF) is an autosomal recessive genetic disorder most commonly found amongst the Caucasian population. In the United States, the reported prevalence of CF for the Caucasian population is 1:3200, for African American is 1:15000 and for Asian American is 1:310001.

A person may either be born with genetic mutations in all of their cells or acquire a genetic mutation in a single cell during his or her lifetime. Most melanomas (about 90%) are considered sporadic, meaning that the damage to the genes occur by chance after a person is born and there is no risk of passing on the gene to a person’s children. An increased risk of melanoma is sometimes called

There are several types of genetic disorders. They all happen when a gene takes a turn during conception. Not everyone is born with a disorder but those who are have or more abnormalities in the genome. Genetic disorders may be hereditary, but others may be the first ones to ever have a their type of condition. No matter what the case is, everyone is human, but some have a little twist to their

This disorder is caused by mutation at sequence of three nucleotides in DNA that specifies a particular amino acid during protein synthesis (codon 6) of the β-globin gene which caused the glutamic acid at position 6 in the normal protein is changed to a valine in the defect protein. This alteration affected the haemoglobin that consists two α-globin and two β-globin subunits. This will caused formation of blockage in blood capillaries made by crystal derived from deoxygenated defect protein.

The gene carrying the defect that produces albinism is recessive, which means that both parents must carry this recessive gene in order to produce a child with the condition. When both parents carry the gene (and neither has albinism), there is a one in four chance with each pregnancy that their child will have albinism. The inheritance pattern of ocular albinism is alittle different. This condition is X-linked, meaning that the recessive gene for ocular albinism is located on the X chromosome. X-linked ocular albinism appears just about only in males who inherit the condition from their mothers.

Albinism is a condition that is inherited from both parents where a person is born with a lack of the usual amount of the pigment melanin. Melanin is the main substance that determines what color hair, eyes, and skin tone someone will have. Albinism is also a rare mutation that affects very few people worldwide, though in some places more than others. The symptoms are quite unique for those who have it as well. Some tribes and small villages even kill or exile those with the mutation.