Mutations of the BRCA1 Gene Research Paper by kristyle

Mutations of the BRCA1 Gene
A paper that discusses the BRCA1 gene and its mutations that lead to several forms of cancer.
# 118234 | 7,617 words | 9 sources | APA | 2007 | AU

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In this article, the writer notes that mutations of the BRCA1 are known to be a cause in early onset breast-ovarian cancer, prostate cancer and colon cancer. The writer describe and experiment that aimed to sequence the exon containing the BRCA1 gene in order to identify disease causing mutations and then clone the gene to accept or reject heterozygosity shown in the sequence on the chromatogram. Salivary DNA was collected, amplified, and sequenced so that the sequence of the chromatogram obtained could be compared with the normal sequence to identify the positions of mutations. The writer discusses that the results obtained helped identify mutations and how to find their positions so that a better understanding of gene mutations and how to find them is acquired. The writer concludes that with the growing knowledge of gene mutations this brings us one step closer to finding a cure.

Rationale Aims
Materials and Methods
Collection of Salivary DNA
Purification of Human Genomic DNA
PCR Amplification of Exon in the BRCA1 Gene
Agarose Gel Electrophoresis/QIAquick PCR Purification
DNA Sequencing Reactions
Sequencing Reaction Cleanup
PCR Amplicon Sequencing Analysis
Cell-Based Cloning of PCR Products (Part One)
Cell-Based Cloning of PCR Products (Part 2)
Cell-Based Cloning of PCR Products (Part 3)
PCR Amplification of Cloned Exons
Cloned Sequence Reactions
Trouble shooting
Gel Electrophoresis of PCR Trouble Shoot

From the Paper:

"The BRCA1 gene was initially discovered in 1990 by Mary-Claire King, however, it wasn't until 1994 that a team of scientists located and amplified the gene. The reason why it took so long to locate the gene was due the fact that it only accounts for only 5% of all breast Cancer Cases. The gene is 100kb long and is located on the long arm of chromosome 17 at locus q21. It is a tumor suppressor gene which, with the interaction of other tumor suppressor genes, helps repair damaged DNA and control cell growth, therefore, keeping genomic stability.
"In response to damage BRCA1 produces a product which is activated and interacts with the BRCA2 and RAD51 to repair the broken DNA. The BRCA2 gene in another gene which when mutated causes breast cancer in men and women whereas BRCA1 only causes breast cancer in women."

Sample of Sources Used:

  • Gibbons s. (2007). Breast cancer genes and the gendering ofknowledge. Great Britain: Antony Rowe Ltd, chippenham & Eastbourne.
  • Human Molecular Genetics Laboratory Workbook. (2007). [handout]. (Available from Edith Cowan Univerisity 100 Joondalup drv, Joondalup, 6027, Western Australia).
  • Human Genetics Laboratory Workbook. (2006). [handout]. (Available from Edith Cowan Univerisity 100 Joondalup drv, Joondalup, 6027, Western Australia).
  • Jorde L.B., Carey J.C., Bamshad M.J., White R.L. (2007). Medical genetics (3rd ed.). Louis, Missouri: Mosby.
  • Online Mendelian Inheritence in Man (OMIM): 113705. (2007).John Hopkins University. Retrieved May 15th, 2007,from

Cite this Research Paper:

APA Format

Mutations of the BRCA1 Gene (2010, January 15) Retrieved April 10, 2020, from

MLA Format

"Mutations of the BRCA1 Gene" 15 January 2010. Web. 10 April. 2020. <>