Go online to the Online Mendelian Inheritance of Man (OMIM) website. Look up the following genetic conditions and answer the questions posed about them.

Look up Tay–Sachs disease (TSD), OMIM number 272800, and give the name and abbreviation of the affected gene and the chromosome location of the gene.

Key Concepts

Tay-Sachs Disease

Tay-Sachs disease is a genetic disorder caused by a deficiency of the enzyme hexosaminidase A (Hex-A), leading to the accumulation of GM2 gangliosides in nerve cells. This condition primarily affects infants and is characterized by neurological deterioration, loss of motor skills, and early death. Understanding the disease's genetic basis is crucial for identifying affected individuals and potential carriers.

Gene and Chromosome Location

The affected gene in Tay-Sachs disease is the HEXA gene, which encodes the alpha subunit of the hexosaminidase A enzyme. This gene is located on chromosome 15 at the position 15q23. Knowledge of gene location is essential for genetic testing, research, and understanding inheritance patterns associated with the disorder.

Online Mendelian Inheritance in Man (OMIM)

OMIM is a comprehensive, authoritative database that catalogs human genes and genetic disorders. It provides detailed information about the genetic basis of diseases, including gene names, chromosomal locations, and inheritance patterns. Utilizing OMIM is vital for researchers and clinicians to access up-to-date genetic information and facilitate diagnosis and treatment planning.