Tightly linked flanking microsatellite markers for the Usher syndrome type I locus on the short arm of chromosome 11

Journal Article · Fri Apr 01 04:00:00 EST 1994 · American Journal of Human Genetics; (United States)

OSTI ID:7034357

Keats, B J.B.; Nouri, N; Pelias, M Z; Deininger, P L ^[1]; Litt, M ^[2]

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1. Louisiana State Univ., New Orleans, LA (United States)
2. Oregon Health Sciences Univ., Portland, OR (United States)

Usher syndrome type I is an autosomal recessive disease characterized by profound congenital hearing impairment and vestibular dysfunction followed by the onset of progressive pigmentary retinopathy in childhood or early adolescence. A locus (USH1C) for one form of this disease was previously assigned to the short arm of chromosome 11 through linkage studies in the Acadian population of southwestern Louisiana. Linkage analyses of a set of microsatellite markers in 27 Acadian families provide evidence that USH1C lies between D11S861 and D11S928. Three markers (D11S419, D11S921, and D11S899) that lie between the flanking markers show no recombination with USH1C, and all 54 chromosomes with the abnormal allele at the disease locus have identical alleles for D11S419 and D11S921. This haplotype was found on only 10 of 50 chromosomes with the normal allele at the disease locus, suggesting a strong founder effect. Of the 54 chromosomes with the abnormal allele, 12 had a divergent allele at D11S899. These results suggest that USH1C is in the 2-3-cM interval between D11S861 and D11S899. 16 refs., 2 figs., 3 tabs.

• OSTI ID: 7034357
• Journal Information: American Journal of Human Genetics; (United States), Journal Name: American Journal of Human Genetics; (United States) Vol. 54:4; ISSN 0002-9297; ISSN AJHGAG
• Country of Publication: United States
• Language: English

Related Subjects

550400* -- Genetics
59 BASIC BIOLOGICAL SCIENCES
AUDITORY ORGANS
BODY
BODY AREAS
CHROMOSOMES
DISEASES
EYES
FACE
GENETIC MAPPING
HEAD
HEREDITARY DISEASES
HUMAN CHROMOSOMES
MAPPING
ORGANS
RETINA
SENSE ORGANS
VESTIBULAR APPARATUS