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Usher syndrome in the Samaritans: Strengths and limitations of using inbred isolated populations to identify genes causing recessive disorders
Year:
1997
Authors :
Seroussi, Eyal
;
.
Volume :
104
Co-Authors:
Bonné-Tamir, B., Department of Human Genetics, Sackler Faculty of Medicine, Tel-Aviv University, Tel-Aviv 69978, Israel, Department of Human Genetics, Sackler Faculty of Medicine, Tel-Aviv 69978, Israel
Nystuen, A., Dept. of Pediat. and Ophthalmology, University of Iowa, Iowa City, IA 52242, United States
Seroussi, E., Department of Human Genetics, Sackler Faculty of Medicine, Tel-Aviv University, Tel-Aviv 69978, Israel
Kalinsky, H., Department of Human Genetics, Sackler Faculty of Medicine, Tel-Aviv University, Tel-Aviv 69978, Israel
Kwitek-Black, A.E., Dept. of Pediat. and Ophthalmology, University of Iowa, Iowa City, IA 52242, United States
Korostishevsky, M., Department of Human Genetics, Sackler Faculty of Medicine, Tel-Aviv University, Tel-Aviv 69978, Israel
Adato, A., Department of Human Genetics, Sackler Faculty of Medicine, Tel-Aviv University, Tel-Aviv 69978, Israel
Sheffield, V.C., Dept. of Pediat. and Ophthalmology, University of Iowa, Iowa City, IA 52242, United States
Facilitators :
From page:
193
To page:
200
(
Total pages:
8
)
Abstract:
We have previously reported significant linkage between markers on 11q13.5 and Usher syndrome type I (USH1B) in a large Samaritan kindred. USH1B is an autosomal recessive disease characterized by profound congenital sensorineural deafness, vestibular dysfunction and progressive visual loss. A unique haplotype found only in all USH1B carriers and affected individuals implied that the disease-causing mutation probably entered the community from a single founder. Screening for mutations in a gene called GARP, which was mapped to the same genetic interval as USH1B, revealed a base substitution in the coding region of the gene, in a homozygous state in all affected individuals. This base substitution, which results in an arginine to tryptophane change, is not found in control individuals and occurs at an amino acid residue that is conserved across species, including mouse, gorilla, chimpanzee and macaque. This study emphasizes the strength of using an isolated inbred population for efficient identification of the primary linkage and for narrowing the disease interval, but also demonstrates its limitations in distinguishing between mutations causing the disease and those representing unique and private polymorphisms.
Note:
Related Files :
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More details
DOI :
10.1002/(SICI)1096-8644(199710)104:2<193::AID-AJPA5>3.0.CO;2-#
Article number:
Affiliations:
Database:
Scopus
Publication Type:
Conference paper
;
.
Language:
English
Editors' remarks:
ID:
25409
Last updated date:
02/03/2022 17:27
Creation date:
17/04/2018 00:14
Scientific Publication
Usher syndrome in the Samaritans: Strengths and limitations of using inbred isolated populations to identify genes causing recessive disorders
104
Bonné-Tamir, B., Department of Human Genetics, Sackler Faculty of Medicine, Tel-Aviv University, Tel-Aviv 69978, Israel, Department of Human Genetics, Sackler Faculty of Medicine, Tel-Aviv 69978, Israel
Nystuen, A., Dept. of Pediat. and Ophthalmology, University of Iowa, Iowa City, IA 52242, United States
Seroussi, E., Department of Human Genetics, Sackler Faculty of Medicine, Tel-Aviv University, Tel-Aviv 69978, Israel
Kalinsky, H., Department of Human Genetics, Sackler Faculty of Medicine, Tel-Aviv University, Tel-Aviv 69978, Israel
Kwitek-Black, A.E., Dept. of Pediat. and Ophthalmology, University of Iowa, Iowa City, IA 52242, United States
Korostishevsky, M., Department of Human Genetics, Sackler Faculty of Medicine, Tel-Aviv University, Tel-Aviv 69978, Israel
Adato, A., Department of Human Genetics, Sackler Faculty of Medicine, Tel-Aviv University, Tel-Aviv 69978, Israel
Sheffield, V.C., Dept. of Pediat. and Ophthalmology, University of Iowa, Iowa City, IA 52242, United States
Usher syndrome in the Samaritans: Strengths and limitations of using inbred isolated populations to identify genes causing recessive disorders
We have previously reported significant linkage between markers on 11q13.5 and Usher syndrome type I (USH1B) in a large Samaritan kindred. USH1B is an autosomal recessive disease characterized by profound congenital sensorineural deafness, vestibular dysfunction and progressive visual loss. A unique haplotype found only in all USH1B carriers and affected individuals implied that the disease-causing mutation probably entered the community from a single founder. Screening for mutations in a gene called GARP, which was mapped to the same genetic interval as USH1B, revealed a base substitution in the coding region of the gene, in a homozygous state in all affected individuals. This base substitution, which results in an arginine to tryptophane change, is not found in control individuals and occurs at an amino acid residue that is conserved across species, including mouse, gorilla, chimpanzee and macaque. This study emphasizes the strength of using an isolated inbred population for efficient identification of the primary linkage and for narrowing the disease interval, but also demonstrates its limitations in distinguishing between mutations causing the disease and those representing unique and private polymorphisms.
Scientific Publication
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