Choice “A” is the best answer. This patient has signs and symptoms consistent with multiple endocrine neoplasia 2B. These signs include mucosal neuromas, as seen in the images above. He also has headaches, palpitations and sweating episodes consistent with a pheochromocytoma. The etiology of MEN2B stems from mutations in RET, a transmembrane proto-oncogene. Although its function is still unknown, the protein produced by RET is critical during embryonic development of the enteric nervous system and kidneys. RET is a RTK that consists of 3 domains, including a cysteine-rich extracellular receptor domain, a hydrophobic transmembrane domain, and an intracellular tyrosine kinase catalytic domain. Point mutations associated with MEN 2A and the FMTC-only subtype has been identified in exons 10 and 11. Evidence of genotype/phenotype correlation exists. Almost all individuals with MEN 2B have an identical mutation in codon 918 of exon 16. Inheritance is autosomal dominant, with variable penetrance and expressivity [1].
Choice “B” is not the best answer. An autosomal recessive disorder develops when two copies of an abnormal gene are passed onto the offspring. Examples of autosomal recessive disorders include cystic fibrosis, sickle cell anemia, and Tay-Sachs disease.
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X-linked dominant inheritance is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome. X-linked dominant traits do not necessarily affect males more than females (unlike X-linked recessive traits). The exact pattern of inheritance varies, depending on whether the father or the mother has the trait of interest. All daughters of an affected father will also be affected but none of his sons will be affected (unless the mother is also affected). In addition, the mother of an affected son is also affected (but not necessarily the other way round). Examples of X-linked dominant conditions include Rett syndrome, Fragile X syndrome, and Alport
5. Males transmit their Y chromosome to their sons. This means that sons will not inherit an X-linked recessive condition from their father.
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.
Fragile X Syndrome is a genetic condition causing intellectual disability, behavioural and learning challenges and various physical characteristics, it occurs in both genders but effects males more. Also is the most common gene for Autism worldwide, every week in Australia one child is born who is fully affected and 20 children are born who are carriers. It is estimated that 5 per cent of people with a diagnosis of an Autism Spectrum disorder also have Fragile X.
Adrenoleukodystrophy is a genetic disease that is passed on from mother to son. ALD is an X-linked disorder. That means it affects only males and is transmitted by a female carrier. This disorder is called X-linked since the genetic abnormality involves the X-chromosome. Women have two X-chromosomes while men only have one. In women, the affected X-chromosome, the one with the gene for ALD does not become active because of the presence of a normal copy of the gene on the other X-chromosome. Men have one X-chromosome and one Y-chromosome. In men who have an X- chromosome for X-ALD, there is no other X- chromosome for protection.
because girls have 2 X chromosomes they are less affected than boy that have 1 Y and 1 X
Autosomal dominant for classical type. But EDS can also be inherited in autosomal recessive or x-linked fashion-
As stated before , Fragile X Syndrome is Inherited in a dominant X-linked sequence. The disease is caused by the pattern
b) Deterministic genes directly cause the disease. Anyone who inherits the genes will develop the disease.
In this case study, Vancity’s CEO, Vrooman, is faced with making the tough decision of deciding if her organization is in a position to reprice its line of credit offerings, in order to stay afloat and competitive, and at the same time, not loose the trust of its customers, who also happens to be the owners. Furthermore, the study showcases how Vancity’s innovative value to adapt to the changing needs in their community gives them a competitive advantage amongst other financial institution. This case is important as it explains tough decisions that top executives and organizations as a whole, are often faced with making, in order to stay competitive and profitable. It also discusses the financial impacts of the recession in the late 2000s on the Canadian economy, particularly the financial industry. This paper will begin with an introduction to this case, discussing the financial industry, and its impact on the Canadian economy, also to be accompanied with some background information on the case study. This will be followed with an analysis of the case study and I will then determine possible decisions that could be taken, and the merits/drawbacks of each decision. At this point, I will elaborate on what decision I think would be ideal and provide the best outcome of benefitting both the organization and its customers.
Fragile X Syndrome (FXS) also known as , the Martin-Bell, or the marker x syndrome. This genetic disorder is an autosomal dominant. It is a genetic condition that causes a range of developmental problems including learning disabilities and cognitive impairment. Majority of the time males are in more risk than females to getting this genetic disorder. For more proof of this fact statistics say that 1 in 4,000 males and 1 in 8,000 females tend get this disorder.This disorder is caused by the expansion of lengthening of FMR1 gene on the X chromosome. When it lengthens it turns off the production of a protein that is involved in brain development and other functions. This Fragile X gene can be passed down through generation.
The mode of inheritance of sickle cell anaemia is autosomal recessive. This type of inheritance means that the child will not get the disease if both of the parents does not pass down the genes which are defect.
Genetic disorders or heredity diseases are disorders that are caused by a missing gene, abnormal gene, or chromosomal characteristic (The Free Dictionary, 2007). There are to me found many genetic disorders. Klinefelter syndrome is an example of a genetic disorder. Klinefelter syndrome affects the male rather than female (“47, XXY”, 2016).
:Albinism is a autosomal recessive disease, which means that a person must have two copies of the defective gene to exhibit symptoms of the disease. The child therefore inherits one defective gene responsible for making melanin from each parents. Because the task of making melanin is complex, there are many different types of albinism, involving a number of different genes.A defect in one of several genes that produce or distribute melanin causes albinism. The defect may result in the absence of melanin production, or a reduced amount of melanin production. The defective gene passes down from both parents to the child and causes albinism.albinism:Until recently, prenatal diagnosis of OCA I was achieved by histologic and electron microscopic
Fragile X syndrome is inherited in an X- linked dominant pattern. This is because the mutated gene that causes the disorder is located on the X
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.