Uses of Human Genome Project Data and Ways of Accessing it

Question 1

An important benefit of the Human Genome Project is the ability to use the electronically compiled genome data to identify genes of interest at particular locations in the genome including?

Answer 1

Genes around an identified translocation breakpoint

Genes within microdeletion and microduplication region

Genes residing at a locus resulting from a linkage study

Question 2

Specific region of interest in the genome may be defined as:

Answer 2

cytogenetic band, region spanned by a specific probe, region defined by precise nucleotide positions as counted from end of the short arm of the chromosome

Question 3

Accessing the genome data can be achieved by using one of the well - established genome browsers, such as ____.

Answer 3

Ensembl

Question 4

The genome databases can also be interrogated using ____, which will find the site in the genome of any entered stretch of DNA (or protein) sequence.

Answer 4

BLAST (Basic Local Alignment Search Tool)

Question 5

There are many clinical applications of the genome data. For instance it is often helpful to use the DNA sequence of a particular gene to act as an ____ when carrying out _____, and in order to identify ____.

Answer 5

initial reference sequence; mutation screening; the intron/exon boundaries, regulatory elements and untranslated regions of a gene.

Question 6

The genome data can permit the _____ within or adjacent to genes of interest for human ____.

Answer 6

rapid identification of genetic markers; family linkage studies

Question 7

A searchable database of DNA reference sequences is invaluable when designing ____ that will anneal to a sequence of interest without binding to any other sequence in the genome.

Answer 7

an oligonucleotide PCR primer

Question 8

Using the human genome data, ____ can be made, allowing identification of evolutionarily conserved, functionally important regions of a gene or protein.

Answer 8

cross-species comparisons of gene sequences