Study Guides (248,643)
United States (123,477)
Biology (219)
BIOL 2301 (12)
Strauss (4)

bio paper 2.doc

4 Pages
74 Views

Department
Biology
Course Code
BIOL 2301
Professor
Strauss

This preview shows page 1. Sign up to view the full 4 pages of the document.
Description
Johnson 1 Xeroderma Pigmentosum (XP) is a genetic disorder regarding DNA repair (1). It causes a deficiency in the body’s ability to remove damage caused by ultraviolet light (1). Therefore, patients have a much higher risk of developing skin cancers. As stated by Yuko Hirai et al. in “Heterozygous individuals bearing a founder mutation in the XPA DNA repair gene comprise nearly 1% of the Japanese population,” XPA contributes to the development of XP. It is one of eight proteins that work together to repair UV- induced DNA damage (1). During the process of nucleotide excision repair of UV-induced DNA damage, the XPA protein is specifically responsible for damage verification, while XPB is recognized as a 3’-5’ helicase (1). XPC and XPE are responsible for binding damage, while XPD is a 5’-3’ helicase (1). XPF and XPG are a 5’ and 3’ nuclease, respectively (1). There is one variant form of XP known (1). Patients with this variant form are defective in repair due to a mutation in the translesional DNA polymerase η (1). Carriers of the XPA mutation suffer the severest form of XP (1). Symptoms of patients with group A XP include cutaneous lesions, and changes in the peripheral nervous system (2). Symptoms of XP in general include hypersensitivity to sun exposure, including blistering and pain that occurs immediately after sun exposure (2). Acute sunburn, constant redness, or inflammation of skin when exposed to sunlight are also common symptoms of this disorder (2). Other symptoms include discoloration, weakness, and scarring of the skin (2). XPA is the most common form of XP in Japan (2). Over half of the Japanese XP patients are homozygous for a founder mutation in the XPA gene (1). A founder mutation is a mutation derived from a single ancestor (1). There are about 1 million carriers of the XPA founder mutation in the Japanese population (1). The XPA founder mutation is a G to C base-change at the 3’ splice acceptor site of intron three (1). This mutation results in no detectable protein production (1). The objective of this paper was to find whether or not heterozygous carriers for mutations in DNA repair genes are at high risk to cancer (1). The study subjects were randomly selected offspring of subjects used in another study aimed at determining the genetic effects of radiation in the offspring of atomic bomb survivors (1). Blood samples Johnson 2 were used in the present study from only one sibling in each family (1). The source of DNA for analysis was archival collections of blood lymphocytes that were stained with Giemsa and mounted as cytogenic slides (1). These subjects were selected from RERF of children born to parents exposed to radiation and control subjects born to parents who were not exposed to radiation (1). RERF is the Radiation Effects Research Foundation (3). The frequency of XP patients in Japan is over ten times higher than that of Western countries (1). The proportion of these patients in group A, the severest form, is almost twice as high as in other countries (1). There is no reason, however, to assume that XP patients in Japan might be a result of the atomic bombs dropped in Hiroshima and Nagasaki because there is a common mutation (founder mutation) more than half of the Japanese XP patients (1). The study showed that the frequency of XPA heterozygotes with the founder mutation was 0.88% (1 in 113) in the Hiroshima and Nagasaki subjects. Hirai et al. used PCR-RFLP analysis to amplify 61 bp DNA and then subjected it to restriction enzymes (1). DNA from XPA heterozygous carriers would show three bands after gel electrophoresis (1). When it was assumed that a sample had the mutation, PCR-RFLP was repeated using the same DNA for confi
More Less
Unlock Document

Only page 1 are available for preview. Some parts have been intentionally blurred.

Unlock Document
You're Reading a Preview

Unlock to view full version

Unlock Document

Log In


OR

Join OneClass

Access over 10 million pages of study
documents for 1.3 million courses.

Sign up

Join to view


OR

By registering, I agree to the Terms and Privacy Policies
Already have an account?
Just a few more details

So we can recommend you notes for your school.

Reset Password

Please enter below the email address you registered with and we will send you a link to reset your password.

Add your courses

Get notes from the top students in your class.


Submit