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Gene of X-chromosomal congenital stationary night blindness is closely linked to DXS7 on Xp


Galli, Andreas; Schinzel, Albert; Orth, Ulrike; Fraser, Neil A; Mollica, Florindo; Craig, Ian W; Kruse, Torben; Mächler, Marco; Neugebauer, Meinhard; Bleeker-Wagemakers, Liesbeth M (1989). Gene of X-chromosomal congenital stationary night blindness is closely linked to DXS7 on Xp. Human Genetics, 81(4):315-318.

Abstract

Congenital stationary night blindness is characterized by disturbed or absent night vision that is always present at or shortly after birth and nonprogressive. The X-linked form of the disease (CSNBX; McKusick catalog no. 31050) differs from the autosomal types in that the former is frequently associated with myopia. X-chromosome-specific polymorphic DNA markers were used to carry out linkage analysis in three European families segregating for CSNBX. Close linkage without recombination was found between the disease locus and the anonymous locus DXS7, mapped to Xp11.3, assigning the mutation to the proximal short arm of the X chromosome. Linkage data obtained with markers flanking DXS7 provided further support for this localization of the gene locus. Thus, in addition to retinitis pigmentosa and Norrie disease, CSNBX represents the third well-known hereditary eye disease the locus of which is mapped on the proximal Xp and closely linked to DXS7.

Abstract

Congenital stationary night blindness is characterized by disturbed or absent night vision that is always present at or shortly after birth and nonprogressive. The X-linked form of the disease (CSNBX; McKusick catalog no. 31050) differs from the autosomal types in that the former is frequently associated with myopia. X-chromosome-specific polymorphic DNA markers were used to carry out linkage analysis in three European families segregating for CSNBX. Close linkage without recombination was found between the disease locus and the anonymous locus DXS7, mapped to Xp11.3, assigning the mutation to the proximal short arm of the X chromosome. Linkage data obtained with markers flanking DXS7 provided further support for this localization of the gene locus. Thus, in addition to retinitis pigmentosa and Norrie disease, CSNBX represents the third well-known hereditary eye disease the locus of which is mapped on the proximal Xp and closely linked to DXS7.

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Additional indexing

Item Type:Journal Article, refereed, original work
Communities & Collections:04 Faculty of Medicine > Institute of Medical Genetics
Dewey Decimal Classification:570 Life sciences; biology
610 Medicine & health
Scopus Subject Areas:Life Sciences > Genetics
Health Sciences > Genetics (clinical)
Uncontrolled Keywords:Genetics (clinical), Genetics, Linkage Analysis, Retinitis, Myopia, Retinitis Pigmentosa, Linkage Data
Language:English
Date:1 March 1989
Deposited On:25 Oct 2023 08:39
Last Modified:30 Mar 2024 04:48
Publisher:Springer
ISSN:0340-6717
OA Status:Closed
Publisher DOI:https://doi.org/10.1007/bf00283682
PubMed ID:2564836
Other Identification Number:Corpus ID: 42338813