Linkage of Usher syndrome type I gene (USH1B) to the long arm of chromosome 11

Journal Article · Tue Dec 01 04:00:00 EST 1992 · Genomics; (United States)

DOI:https://doi.org/10.1016/S0888-7543(05)80121-1· OSTI ID:6483106

Kimberling, W; Kenyon, J B; Grunkemeyers, J A ^[1]; Moeller, C G ^[2]; Davenport, S ^[3]; Priluck, I A ^[4]; Beighton, H; Greenberg, J ^[5]; Reardon, W ^[6]; Weston, M D

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1. Boys Town National Research Hospital, Omaha, NE (United States)
2. Linkoping Univ. Hospital (Sweden)
3. Sensory Genetics/Development, Bloomington, MN (United States)
4. Creighton Univ. School of Medicine, Omaha, NE (United States)
5. Univ. of Cape Town Medical School, (South Africa)
6. Institute of Child Health, London (United Kingdom)

Usher syndrome is the most commonly recognized cause of combined visual and hearing loss in technologically developed countries. There are several different types and all are inherited in an autosomal recessive manner. There may be as many as five different genes responsible for at least two closely related phenotypes. The nature of the gene defects is unknown, and positional cloning strategies are being employed to identify the genes. This is a report of the localization of one gene for Usher syndrome type I to chromosome 11q, probably distal to marker D11S527. Another USH1 gene had been previously localized to chromosome 14q, and this second localization established the existence of a new and independent locus for Usher syndrome. 31 refs., 2 figs., 3 tabs.

• OSTI ID: 6483106
• Journal Information: Genomics; (United States), Journal Name: Genomics; (United States) Vol. 14:4; ISSN 0888-7543; ISSN GNMCEP
• Country of Publication: United States
• Language: English

Related Subjects

550400* -- Genetics
59 BASIC BIOLOGICAL SCIENCES
CHROMOSOMES
DISEASES
ETIOLOGY
GENETIC MAPPING
HUMAN CHROMOSOMES
MAPPING
SENSE ORGANS DISEASES