Mutation Case Studies Samples For Students

Assignment #1: Epistasis

- What did you observe in the F1 generation?

The F1 generation was comprised of wild types in terms of wing size and wing vein.

Was this what you expected? Why or why not?
Yes. The wing mutation and the vestigial wing size genes are recessive and hence would not be expressed.

Once you have produced an F1 generation, mate F1 flies to generate an F2 generation.

Study the results of your F2 generation and then answer the following questions.

Which mutation is epistatic?
The vestigial wing gene is the epistatic one.
Is the vestigial mutation ...

Leber hereditary optic neuropathy (LHON), also known as Leber optic atrophy, is a familial neuro-ophthalmologic disorder manifest by varying degrees of loss of ganglion cells from the optic nerve, with variable severity at onset, variable rate of deterioration, variable ultimate vision outcome and variable recovery of lost vision (Kelly).

Causes

LHON is caused by any of eighteen mutations of various mitochondrial genes coding for subunits of electron transport chain complexes, primarily complex I (NADH-dehydrogenase), which are responsible for converting energy derived from food into a form usable at the cellular level. Three of these mutations, those at base pairs 11778, 3460 and ...

Question 1: Explain the pathophysiologic defect of Cystic Fibrosis.

A mutation of a single gene, on chromosome 7, leads to the disease, cystic fibrosis. The gene is responsible for encoding the cystic fibrosis transmembrane conductance regulator (CFTR) protein. The normal CFTR is a regulator of chloride channels, which can lead to the regulation of chloride and sodium channels on the surface of the cell. The most common mutation leading to an abnormal CFTR is a mutation is delta F508. The disease can have different phenotypic manifestations depending on the extent of the mutation. The differences in chloride transduction leads to abnormal secretions in various organs, such as the lungs leading to ...

Test cross

What was the phenotypic ratio for the offspring resulting from this testcross?
Results for the F1 generation for monohybrid cross between a female fly with brown eye (BW) color with a male fly having ebony body (E) color are as shown below.

Fly lab Lab Notes for Steven F

Parents
(Female: BW) x (Male: E)
Offspring
Phenotype Number Proportion Ratio
Female: + 494 0.5067 1.027
Male: + 481 0.4933 1.000

Total 975

All the offspring had a wild-type phenotype for the brown eyes and ebony body. This shows that, both brown eye and ebony body are recessive genes. The phenotypic ratio for the offspring resulting from the ...

Crouzon disease is a genetic syndrome characterized by premature obliteration and ossification of two or more sutures of the skull [most often the saggital and coronal sutures], exophthalmoses and mid-facial hypoplasia, resulting in a craniofacial dysostosis. It is often called a craniostenosis. (Mary, Kugler) The type of stenosis is determined by the sutures which are obliterated. Types include scaphocephaly in which the head looks like a boat, oxycephaly in which the top of the head is pointed, wedge-shaped skull and oblique types have been documented in literature. (Lukasz, Mutusiak)
Crouzon's disease is a rare disease that affects 1 in 25000 live births worldwide ...

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Introduction

A virus is a program capable of self-replication. Most viruses tend to be parasitic by nature. It can attach itself to any file or object and can be transmitted to another computer. The virus, once activated, looks for another suitable carrier to attach itself to transfer. By nature, viruses and worms are similar, in the sense that they both can replicate. Unlike a virus, a worm does not need a host to latch on to and can be transmitted by initiating telecommunications. . However, there are several intermediate forms that resemble both viruses and worms, and these terminologies can be used interchangeably ...

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At any given time, we are in contact with millions of bacteria; some of these bacteria are beneficial to us, while others are not. On occasion, the harmful bacteria are allowed access to our bodies and begin to replicate. Subsequently, we become sick and visit the doctor who prescribes an antibiotic. The antibiotic enters our system and destroys all of the bacteria it comes in contact with, including the good bacteria that helps the body fight off disease. ...

Abstract

Cancer is one of the most dreaded diseases of all time. It was considered as a disease that cannot be remedied except for the medical breakthroughs in the past half century. So deep is cancer’s fear that it instills depression in its sufferers as soon as its name is mentioned. However, thanks to medical breakthroughs it is curable and the media emphasizes on this night and day. What is cancer and how does it spread, what are its kinds and how it influences the society? An attempt has been made answer these questions in the following article.
Keywords: ...