Searching for the Causes of Inherited Hearing Loss—How Is It Done? Hearing scientists around the world are conducting genetic studies aimed at identifying the genes responsible for hereditary hearing loss (Van Camp & Smith, 2003). These scientists usually look for large extended families with 60 or more members to obtain genetic information on a large enough number of individuals to ... Article
Article  |   November 01, 2004
Searching for the Causes of Inherited Hearing Loss—How Is It Done?
Author Affiliations & Notes
  • Valerie A. Street
    V.M. Bloedel Hearing Research Center, University of Washington, Seattle, WA
Article Information
Hearing Disorders / Special Populations / Genetic & Congenital Disorders / Articles
Article   |   November 01, 2004
Searching for the Causes of Inherited Hearing Loss—How Is It Done?
SIG 6 Perspectives on Hearing and Hearing Disorders: Research and Diagnostics, November 2004, Vol. 8, 7-9. doi:10.1044/hhd8.2.7
SIG 6 Perspectives on Hearing and Hearing Disorders: Research and Diagnostics, November 2004, Vol. 8, 7-9. doi:10.1044/hhd8.2.7
Hearing scientists around the world are conducting genetic studies aimed at identifying the genes responsible for hereditary hearing loss (Van Camp & Smith, 2003). These scientists usually look for large extended families with 60 or more members to obtain genetic information on a large enough number of individuals to improve the chances of finding the gene responsible for that family’s hearing loss. Once the family is identified and decides they are willing to participate in the study, DNA is collected in the form of blood samples from those family members who wish to participate. The genetic research involves the development of a “pedigree,” which is a chart of all the family members and their relationships to one another, noting which ones are affected by the hearing loss and which are not. Then the DNA samples from the family members are used to search for the gene that causes the hearing loss. The Western Hereditary Equilibrium and Auditory Research (HEAR) Group at the University of Washington in Seattle coordinated by Dr. Valerie Street conducts genetic research in collaboration with families experiencing auditory and vestibular problems. This research involves analysis of over 500 “addresses” on the DNA of each family member. These addresses, called simple sequence repeat polymorphisms or microsatellite markers, are short sequences of repetitive DNA (e.g., cacacacan) that vary in length from one individual to another (Hearne, Ghosh, & Todd, 1992). (These same marker sets are also used by forensic labs to create a DNA fingerprint when they are trying to match the DNA sample from a suspect with DNA left at the crime scene.) Using these marker sets is like looking for a needle in a haystack, but scientists conduct these studies in a very organized way. They are looking for which of these 500 addresses is always inherited with the hearing loss. If they find such an address, that address is said to “map to” or “segregate with” the hearing loss, and it identifies the region of DNA containing the gene that causes the auditory impairment.
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