Mapping of the human cone transducin alpha-subunit (GNAT2) gene to 1p13 and negative mutation analysis in patients with Stargardt disease

I Magovcevic; S Weremowicz; C C Morton; S L Fong; E L Berson; T P Dryja

Mapping of the human cone transducin alpha-subunit (GNAT2) gene to 1p13 and negative mutation analysis in patients with Stargardt disease

I Magovcevic, S Weremowicz, C C Morton, S L Fong, E L Berson, T P Dryja

Division of Evolution, Infection and Genomics

Research output: Contribution to journal › Article › peer-review

Abstract

We report localization of the human cone transducin (GNAT2) gene using fluorescence in situ hybridization on chromosome 1 in band p13. The recent assignment of a gene for Stargardt disease to the same chromosomal region by linkage analysis prompted us to investigate the possible role of GNAT2 in the pathogenesis of this disease. We investigated 66 unrelated patients for mutations in the coding region of the GNAT2 gene using polymerase chain reaction-single strand conformation polymorphism analysis (SSCP) and direct sequencing. No disease-specific mutations were found, indicating that GNAT2 is probably not involved in the pathogenesis of most cases of Stargardt disease.

Original language	English
Pages (from-to)	288-90
Number of pages	3
Journal	Genomics
Volume	25
Issue number	1
Publication status	Published - 1 Jan 1995

Keywords

Base Sequence
Chromosome Banding
Chromosome Mapping
Chromosomes, Human, Pair 1
DNA Mutational Analysis
DNA Primers
Exons
Genetic Linkage
Humans
In Situ Hybridization, Fluorescence
Macromolecular Substances
Macular Degeneration
Molecular Sequence Data
Point Mutation
Polymerase Chain Reaction
Retinal Cone Photoreceptor Cells
Transducin
Journal Article
Research Support, Non-U.S. Gov't
Research Support, U.S. Gov't, P.H.S.

UN SDGs

This output contributes to the following UN Sustainable Development Goals (SDGs)

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title = "Mapping of the human cone transducin alpha-subunit (GNAT2) gene to 1p13 and negative mutation analysis in patients with Stargardt disease",

abstract = "We report localization of the human cone transducin (GNAT2) gene using fluorescence in situ hybridization on chromosome 1 in band p13. The recent assignment of a gene for Stargardt disease to the same chromosomal region by linkage analysis prompted us to investigate the possible role of GNAT2 in the pathogenesis of this disease. We investigated 66 unrelated patients for mutations in the coding region of the GNAT2 gene using polymerase chain reaction-single strand conformation polymorphism analysis (SSCP) and direct sequencing. No disease-specific mutations were found, indicating that GNAT2 is probably not involved in the pathogenesis of most cases of Stargardt disease.",

keywords = "Base Sequence, Chromosome Banding, Chromosome Mapping, Chromosomes, Human, Pair 1, DNA Mutational Analysis, DNA Primers, Exons, Genetic Linkage, Humans, In Situ Hybridization, Fluorescence, Macromolecular Substances, Macular Degeneration, Molecular Sequence Data, Point Mutation, Polymerase Chain Reaction, Retinal Cone Photoreceptor Cells, Transducin, Journal Article, Research Support, Non-U.S. Gov't, Research Support, U.S. Gov't, P.H.S.",

author = "I Magovcevic and S Weremowicz and Morton, {C C} and Fong, {S L} and Berson, {E L} and Dryja, {T P}",

year = "1995",

month = jan,

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language = "English",

volume = "25",

pages = "288--90",

journal = "Genomics",

issn = "0888-7543",

publisher = "Elsevier BV",

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TY - JOUR

T1 - Mapping of the human cone transducin alpha-subunit (GNAT2) gene to 1p13 and negative mutation analysis in patients with Stargardt disease

AU - Magovcevic, I

AU - Weremowicz, S

AU - Morton, C C

AU - Fong, S L

AU - Berson, E L

AU - Dryja, T P

PY - 1995/1/1

Y1 - 1995/1/1

N2 - We report localization of the human cone transducin (GNAT2) gene using fluorescence in situ hybridization on chromosome 1 in band p13. The recent assignment of a gene for Stargardt disease to the same chromosomal region by linkage analysis prompted us to investigate the possible role of GNAT2 in the pathogenesis of this disease. We investigated 66 unrelated patients for mutations in the coding region of the GNAT2 gene using polymerase chain reaction-single strand conformation polymorphism analysis (SSCP) and direct sequencing. No disease-specific mutations were found, indicating that GNAT2 is probably not involved in the pathogenesis of most cases of Stargardt disease.

AB - We report localization of the human cone transducin (GNAT2) gene using fluorescence in situ hybridization on chromosome 1 in band p13. The recent assignment of a gene for Stargardt disease to the same chromosomal region by linkage analysis prompted us to investigate the possible role of GNAT2 in the pathogenesis of this disease. We investigated 66 unrelated patients for mutations in the coding region of the GNAT2 gene using polymerase chain reaction-single strand conformation polymorphism analysis (SSCP) and direct sequencing. No disease-specific mutations were found, indicating that GNAT2 is probably not involved in the pathogenesis of most cases of Stargardt disease.

KW - Base Sequence

KW - Chromosome Banding

KW - Chromosome Mapping

KW - Chromosomes, Human, Pair 1

KW - DNA Mutational Analysis

KW - DNA Primers

KW - Exons

KW - Genetic Linkage

KW - Humans

KW - In Situ Hybridization, Fluorescence

KW - Macromolecular Substances

KW - Macular Degeneration

KW - Molecular Sequence Data

KW - Point Mutation

KW - Polymerase Chain Reaction

KW - Retinal Cone Photoreceptor Cells

KW - Transducin

KW - Journal Article

KW - Research Support, Non-U.S. Gov't

KW - Research Support, U.S. Gov't, P.H.S.

M3 - Article

C2 - 7774932

SN - 0888-7543

VL - 25

SP - 288

EP - 290

JO - Genomics

JF - Genomics

IS - 1

ER -

Mapping of the human cone transducin alpha-subunit (GNAT2) gene to 1p13 and negative mutation analysis in patients with Stargardt disease

Abstract

Keywords

UN SDGs

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