Xeroderma Pigmentosum Genetic Disorder

There are three main types of EB. Each is caused by a different mutation. The most common type of EB is Epidermolysis Bullosa simplex (EBS). This variation is unlike the other two in the fact that it is autosomal dominant. The gene that is mutated is called keratin 14 or KRT14 for short. This gene in particular codes for keratins, a type of protein that forms skin, hair and nails. There are over 60 mutations that have been found in people living with EBS from this gene alone. Keratin 14 is located on chromosome 17.

Melanoma is caused by over exposure to UV which can sometimes cause sunburn, it can be especially critical to those whom are inclined to the disease itself. The tumours derive in the pigment-producing melanocytes which are inside the basal layer of the

This syndrome is not very common, because it is a rare condition. Its prevalence is not certain, but the proximate amount is 5 to 10 individuals per million newborns. Research workers appraise that there are approximately 200 to 300 individuals around the world who have this disorder. It is observed with equivalent recurrence in both males and females over all ethnic groups.

Females are carriers in their X-Chromosome and they have the chance of passing the disease on to their children, 50-50 to a girl and 50-50 to a boy. If the girl does receive the gene she becomes a carrier. If the boy gets the gene then he has the disease. Males do not pass on the gene to their children because they pass on the Y-chromosome and the disease is X specific. Some female carriers have indicators of being a carrier by having symptoms of cardiomyopathy, shortness of breath during exercise, and muscle weakness in the back, arms, and legs. There have been very rare instances where a girl has not received a

Vitiligo is a chronic skin disorder that affects the pigmentation of the skin. Pigment is what gives the skin color and is produced by cells called melanocytes. In the disorder, the body attacks the melanocytes resulting in the loss of color in patchy areas. When the color is lost, the affected area becomes a white irregular shaped patch on the outer layer of the skin. Vitiligo can affect a very small portion of the body or affect up to fifty percent of the skin. The most common areas of the body affected by the disorder include the hands, feet, arms, face and sometimes the genitalia. This illness can be treated but it cannot be cured

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

10-15% of retinitis pigmentosa cases are X-linked and they tend to be the most serious as the disease manifests early and progresses rapidly in men (Haddad et al., 2016; Pawlyk et al., 2016). There has been research that shows that some female carriers of X-linked retinitis pigmentosa have been affected by the disease, but the mechanism behind this remains a mystery. The female carriers typically do not manifest symptoms as they have two X-chromosomes and can form barr bodies in which one of the chromosomes is inactivated and the other remains active. The time frame that most X-linked retinitis pigmentosa patients are given to expect complete blindness is typically from age 30-40, although some X-linked retinitis pigmentosa patients have experienced a complete loss of vision much earlier than this (Haddad et al.,

Although the disease often occurs in adolescent or young women, it more commonly appears between 30 and 50 years of age.

Inheriting melanoma through genetic mutation is rare in many forms, but can be diagnosed in anyone. There are 13 loci that have been identified to having melanomal mutations (Molven et al. 2015). The three main genes that are associated with melanoma are CDKN2A, CDK4, and MC1R. CDKN2A and CDK4 are genes used to produce protein for tumor suppressants (Aoude et al. 2015). These tumor suppressants are used to make sure that the regulation of the cell cycle is occurring at normal rate. The MC1R gene is associated with the skin color and melanin type. The type of pigmentation in the hair and skin can cause an increase in the susceptibility of melanoma (Mitra et al. 2012). A mutation in the coding process to produce amino acids and protein synthesis from these genes can cause an increase the risk of melanoma. Melanoma is passed down through autosomal dominance. The mutation can be passed down from generation to generation. When cells are created, usually a copy of a gene is passed from one sperm and from one egg, known as germline mutation. If one parent has the genetic mutation, there is a 50% chance that the mutation will be passed down to the child (Familial Malignant Melanoma 2015). This is a huge possibility for a parent to pass down a mutated version that increases the likelihood of being diagnosed with melanoma. This shows that many people could have the genetic mutation

The graph above shows the Melanoma Incidence and Mortality in the United States. Melanoma is one of the newest type of cancer diagnosis that is the fifth most common type of new cancer in American men and the seventh most common in American women. Whites or Caucasians are more at risk of growing melanoma than African Americans, which makes the incidence and mortality rates for melanoma highest in Whites and Caucasians. Incidence rates are higher in women than in men that are younger than the age of 45 years old. Melanoma incidence rates in men are more than twice as higher of those in women at the age of 60 or older. When a man reaches the age of 80 they are three times more times likely to grow melanoma than women. The yearly incidence rate

Red-green colorblindness is usually inherited in an X-linked recessive way and it affects an approximated 6 percent of men in the world. This means that, the disorder is usually passed to the affected persons through the X chromosomes thus making the condition to be experienced more by men than

Each variation of Griscelli syndrome is caused by a mutation in a different gene, however, each variation presents the same hallmark phenotype; hypopigmentation. The reason for this is because the three genes involved (MYO5A, RAB27A, and MLPH) play similar roles in the transport of the pigment melanin. The MYO5A, RAB27A, and MPLH genes all produce proteins that are found within cells known as melanocytes (“Griscelli syndrome,” 2016). Melanocytes are generally found in the stratum basale of the skin’s epidermis and the uvea of the eye. Through a process termed melanogenesis, melanocytes produce the pigment melanin. Within the melanocytes, the proteins produced by these three genes work cooperatively and form a complex to transport structures called melanosomes. Melanosomes are organelles found within the melanocytes that serve as the site of synthesis, storage, and transport of melanin (“Griscelli syndrome,” 2016). When a mutation impairs the normal function of any of the three genes involved in the transport of the melanosomes, the production of the proteins produced by these genes is also interrupted. As a result, the normal transport of melanin within the melanocyte is disrupted, as there is a lack of available proteins, thus, no protein complex for melanosome transportation. Although the transport of melanin is disrupted, melanogenesis still continues within the cell, producing more melanin. In normal protein function within the melanocyte, the melanosomes are transported

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.

As shown in the graph, the figure of X disease commenced at around 100 cases, which remained relatively stable over the following 5 years. From 1965 to1975, there was a considerable growth of the X diseas in Someland, reaching a peak of 500. This figure was 5- fold higher than its commencing figure.

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.