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

Go to the 'Population Genetics' section discussing the TSD gene. In a few sentences, summarize the human population in which TSD is most frequently found and give the approximate frequency of heterozygous carriers for the TSD mutation in North American Jews.

Key Concepts

TSD Gene and Its Role

The TSD gene, or Tay-Sachs disease gene, is responsible for producing an enzyme called hexosaminidase A, which is crucial for breaking down certain lipids in the brain. Mutations in this gene lead to the accumulation of GM2 gangliosides, causing severe neurological damage. Understanding the function of the TSD gene is essential for grasping the implications of its mutations and the resulting genetic conditions.

Population Genetics

Population genetics is the study of genetic variation within populations and involves the examination of allele frequency distributions and changes over time. It helps in understanding how genetic traits, such as the TSD mutation, are passed through generations and how they affect specific populations, particularly in terms of carrier frequency and disease prevalence.

Carrier Frequency

Carrier frequency refers to the proportion of individuals in a population who carry one copy of a mutated gene but do not exhibit symptoms of the associated genetic disorder. In the context of TSD, the carrier frequency among North American Jews is notably high due to historical genetic drift and founder effects, making it a critical factor in assessing the risk of Tay-Sachs disease in this population.