Oculocutaneous Albinism Test Report

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Q3

The method of 454 Pyrosequencing could be used in this condition. “ It initially uses the emulsion PCR technique to construct the polonies required for sequencing and removes the complementary strand. Next, a ssDNA sequencing primer hybridizes to the end of the strand (primer-binding region), then the four different dNTPs are then sequentially made to flow in and out of the wells over the polonies. When the correct dNTP is enzymatically incorporated into the strand, it causes release of pyrophosphate. “(atbio 2014) It used ‘dideoxynucleotides to terminate chain amplification (as in Sanger sequencing), pyrosequencing instead detects the release of pyrophosphate when nucleotides are added to the DNA chain.’(Mardis, E.2013) It would require the PCR technique to bulid the polonies. So that it would produce pyrophodphste to be converted into ATP in order to produce signal that could be detected. And this technique is developed by 454 Life Sciences. Compared with the previous test, both of them would have some advantages and disadvantages. However, it is obvious that the first one is better than the second one. Even though it has longer steps, but it uses two ways of PCR due to the amplification than the second one. The extra step would help to lead the result more accurate. And the library also helps to establish a faster way of procedure than the previous E.coli one. It would be much convenient and correct to use.

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Reference

Mardis, E.; Next-Generation DNA Sequencing Methods. Annu. Rev. Genomics Hum. Genet. 9, 387 − 402 (2008).

Mardis, E.; Next-Generation DNA Sequencing Platforms. Annu. Rev. Anal. Chem. 6, 287-303 (2013).

Richard Alan Lewis, MD, MS (2013)‘Oculocutaneous Albinism Type 1’, Avilable at http://www.ncbi.nlm.nih.gov/books/NBK1166/

Kunal Ray, Moumita Chaki, Mainak Sengupta(2007) ‘yrosinase and ocular diseases: Some novel thoughts on the molecular basis of oculocutaneous albinism type 1’ Avilable at http://www.sciencedirect.com.ezproxy.lib.monash.edu.au/science/article/pii/S135094620700002X

ATDbio (2005-2016) ‘Next generation sequencing ‘avilable at http://www.atdbio.com/content/58/Next-generation-sequencing’