2. The National Center for Biotechnology Information (NCBI) maintains informatio

Question

2. The National Center for Biotechnology Information (NCBI) maintains information the genomes of many species, including humans. Go to the NCBI Map Viewer for the human genome here: gov/genome/gdv? Scroll to the ideogram at the bottom right of the page (A) Which human chromosome consists of the largest DNA molecule? How many base pairs long is this chromosome? How many genes does it have?Hint: you click on the longest chromosome on the ideogram. Base-pair info and number of genes are listed along the top of the screen. (B-E) Return to the Map Viewer at the link above. Find the CENPA (Centromere Protein A) gene on the human genome map (recall we saw this protein in lecture). (B) What chromosome is CENPA on? (C) What is the nucleotide position of CENPA? What the approximate position of CENPA on the cytological map? Hint: find the information at the top of the browser window Cytological position is shown by the shaded box on the ideogram.

Explanation / Answer

2.

A) The longest chromosome is A. It has 248,956,422 bp long DNA. It contains 5078 genes.

B) CENPA is located in chromosome 2.

C) It starts at 26,785,156 bp and ends at 26,795,447bp. It is approximately located at band 2p23.3 position.

D) a) A total of 112 human variants have been recorded till date.

b) Out of this 8 have been recorded as pathogenic.

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