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Mutation screening and haplotype analysis of the rhodopsin gene locus in Japanese patients with retinitis pigmentosa

PURPOSE: To identify nucleotide sequence variations in the rhodopsin (RHO) gene of Japanese patients with retinitis pigmentosa (RP) in order to search for mutations or haplotypes responsible for RP. METHODS: The entire region of RHO locus including a promoter region and introns was sequenced using b...

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Autores principales: Ando, Yuichiro, Ohmori, Masayuki, Ohtake, Hideki, Ohtoko, Kuniyo, Toyama, Shigeru, Usami, Ron, O’hira, Aya, Hata, Hiromi, Yanashima, Kenji, Kato, Seishi
Formato: Texto
Lenguaje:English
Publicado: Molecular Vision 2007
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2776539/
https://www.ncbi.nlm.nih.gov/pubmed/17653048
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author Ando, Yuichiro
Ohmori, Masayuki
Ohtake, Hideki
Ohtoko, Kuniyo
Toyama, Shigeru
Usami, Ron
O’hira, Aya
Hata, Hiromi
Yanashima, Kenji
Kato, Seishi
author_facet Ando, Yuichiro
Ohmori, Masayuki
Ohtake, Hideki
Ohtoko, Kuniyo
Toyama, Shigeru
Usami, Ron
O’hira, Aya
Hata, Hiromi
Yanashima, Kenji
Kato, Seishi
author_sort Ando, Yuichiro
collection PubMed
description PURPOSE: To identify nucleotide sequence variations in the rhodopsin (RHO) gene of Japanese patients with retinitis pigmentosa (RP) in order to search for mutations or haplotypes responsible for RP. METHODS: The entire region of RHO locus including a promoter region and introns was sequenced using blood-derived genomic DNA samples donated by 68 patients with RP and 68 control subjects. RESULTS: We found 39 single nucleotide substitutions including 17 rare substitutions of less than 1% in frequency, one insertion/deletion polymorphism, and one CA-repeat polymorphism in a 7.8 kbp region spanning the promoter, five exons, and four introns of the RHO gene locus. There were no affected subjects with amino acid substitutions in RHO, and there was 1 control subject with a novel substitution (Ala42Thr) who had no symptoms of RP. Fine analysis of single nucleotide polymorphism (SNPs) revealed eight haplotype structures of the Japanese RHO locus. There was no significant difference between RP patients and controls in terms of haplotype frequency. CONCLUSIONS: No mutation causing an amino acid substitution of RHO was observed in 68 Japanese patients with RP, but 1 control subject did have a novel amino acid substitution. The Japanese RHO locus is comprised of eight major haplotypes. The RP-associated haplotype was not identified. The haplotype-tagging SNPs identified in this study will be useful as markers for the linkage-based screening of RP patients.
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spelling pubmed-27765392009-11-14 Mutation screening and haplotype analysis of the rhodopsin gene locus in Japanese patients with retinitis pigmentosa Ando, Yuichiro Ohmori, Masayuki Ohtake, Hideki Ohtoko, Kuniyo Toyama, Shigeru Usami, Ron O’hira, Aya Hata, Hiromi Yanashima, Kenji Kato, Seishi Mol Vis Research Article PURPOSE: To identify nucleotide sequence variations in the rhodopsin (RHO) gene of Japanese patients with retinitis pigmentosa (RP) in order to search for mutations or haplotypes responsible for RP. METHODS: The entire region of RHO locus including a promoter region and introns was sequenced using blood-derived genomic DNA samples donated by 68 patients with RP and 68 control subjects. RESULTS: We found 39 single nucleotide substitutions including 17 rare substitutions of less than 1% in frequency, one insertion/deletion polymorphism, and one CA-repeat polymorphism in a 7.8 kbp region spanning the promoter, five exons, and four introns of the RHO gene locus. There were no affected subjects with amino acid substitutions in RHO, and there was 1 control subject with a novel substitution (Ala42Thr) who had no symptoms of RP. Fine analysis of single nucleotide polymorphism (SNPs) revealed eight haplotype structures of the Japanese RHO locus. There was no significant difference between RP patients and controls in terms of haplotype frequency. CONCLUSIONS: No mutation causing an amino acid substitution of RHO was observed in 68 Japanese patients with RP, but 1 control subject did have a novel amino acid substitution. The Japanese RHO locus is comprised of eight major haplotypes. The RP-associated haplotype was not identified. The haplotype-tagging SNPs identified in this study will be useful as markers for the linkage-based screening of RP patients. Molecular Vision 2007-06-29 /pmc/articles/PMC2776539/ /pubmed/17653048 Text en http://creativecommons.org/licenses/by/3.0/ This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
spellingShingle Research Article
Ando, Yuichiro
Ohmori, Masayuki
Ohtake, Hideki
Ohtoko, Kuniyo
Toyama, Shigeru
Usami, Ron
O’hira, Aya
Hata, Hiromi
Yanashima, Kenji
Kato, Seishi
Mutation screening and haplotype analysis of the rhodopsin gene locus in Japanese patients with retinitis pigmentosa
title Mutation screening and haplotype analysis of the rhodopsin gene locus in Japanese patients with retinitis pigmentosa
title_full Mutation screening and haplotype analysis of the rhodopsin gene locus in Japanese patients with retinitis pigmentosa
title_fullStr Mutation screening and haplotype analysis of the rhodopsin gene locus in Japanese patients with retinitis pigmentosa
title_full_unstemmed Mutation screening and haplotype analysis of the rhodopsin gene locus in Japanese patients with retinitis pigmentosa
title_short Mutation screening and haplotype analysis of the rhodopsin gene locus in Japanese patients with retinitis pigmentosa
title_sort mutation screening and haplotype analysis of the rhodopsin gene locus in japanese patients with retinitis pigmentosa
topic Research Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2776539/
https://www.ncbi.nlm.nih.gov/pubmed/17653048
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