Science Teaching Series

Internet Resources

I. Developing Scientific Literacy

II. Developing Scientific Reasoning

III. Developing Scientific Understanding

IV. Developing Scientific Problem Solving

V. Developing Scientific Research Skills

VI. Resources for Teaching Science

Activity 19.2.3 – Human genome

The Human Genome Project has discovered approximately 25,000 human genes, three billion DNA subunits, and has published much of this information on the Internet through online databases such as the human genome database (gene map of the human genome) provided by National Center for Biotechnology Information (NCBI).

(1) Using information gathered from a general Internet search, summarize the nature of the following genetic disorders: cystic fibrosis, achondroplasia, albinism, and hemochromatosis.  Locate the gene that results in each disorder by performing a search using the online human genome database [,, or search human genome database].  Print out a gene map showing the location of each gene on its chromosome.

(2) Many conditions result from the insufficiency or overproduction of hormones.  For example, diabetes results from an insufficiency of insulin.  Print out a gene map showing the location of a gene responsible for insulin production. 

(3) Congenital hypothyroidism is a condition that affects infants from birth and results from a partial or complete loss of thyroid function (hypothyroidism).  Its symptoms may include fatigue, weakness and weight gain since thyroxin, the hormone of the thyroid gland, controls metabolism and is lacking in such individuals.  Mutations in the PAX8, SLC5A5, TG, TPO, TSHB, and TSHR genes cause congenital hypothyroidism. Print a gene map showing the location on chromosomes of one or more genes that may lead to hypothyroidism.

NIH. (2007). Human Genome Database. National Center for Biotechnology Information, National Institutes of Health. Retrieved June 11, 2007 from