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Genetic variants and haplotypes of the UGT1A9, 1A7 and 1A1 genes in Chinese Han
In this report, we describe combined polymorphisms of the UGT1A9, UGT1A7 and UGT1A1 genes in 100 unrelated, healthy Chinese Han subjects. The functional regions of these genes were sequenced and comprehensively analyzed for genetic polymorphisms. Thirty variants were detected, including five novel f...
Autores principales: | , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Sociedade Brasileira de Genética
2012
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3389530/ https://www.ncbi.nlm.nih.gov/pubmed/22888291 http://dx.doi.org/10.1590/S1415-47572012005000036 |
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author | Zhang, Xiaoqing Ao, Guokun Wang, Yuewen Yan, Wei Wang, Min Chen, Erfei Yang, Fangfang Yang, Jin |
author_facet | Zhang, Xiaoqing Ao, Guokun Wang, Yuewen Yan, Wei Wang, Min Chen, Erfei Yang, Fangfang Yang, Jin |
author_sort | Zhang, Xiaoqing |
collection | PubMed |
description | In this report, we describe combined polymorphisms of the UGT1A9, UGT1A7 and UGT1A1 genes in 100 unrelated, healthy Chinese Han subjects. The functional regions of these genes were sequenced and comprehensively analyzed for genetic polymorphisms. Thirty variants were detected, including five novel forms. Tentative functional predictions indicated that a Cys → Arg substitution at position 277 in the UGT1A7 gene could alter the protein conformation and that 12460T > G in the 3′UTR might influence protein translation through specifically expressed miRNAs. UGT1A9*1b was a major functional variant in the subjects examined whereas the *1f allele had a frequency of only 0.5%. A special functional haplotype (GAGAAC) was identified for UGT1A9, 1A7 and 1A1. These findings provide fundamental genetic information that may serve as a basis for larger studies designed to assess the metabolic phenotypes associated with UGT1A polymorphisms. They also provide important data for the implementation of personalized medicine in Chinese Han. |
format | Online Article Text |
id | pubmed-3389530 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2012 |
publisher | Sociedade Brasileira de Genética |
record_format | MEDLINE/PubMed |
spelling | pubmed-33895302012-08-10 Genetic variants and haplotypes of the UGT1A9, 1A7 and 1A1 genes in Chinese Han Zhang, Xiaoqing Ao, Guokun Wang, Yuewen Yan, Wei Wang, Min Chen, Erfei Yang, Fangfang Yang, Jin Genet Mol Biol Human and Medical Genetics In this report, we describe combined polymorphisms of the UGT1A9, UGT1A7 and UGT1A1 genes in 100 unrelated, healthy Chinese Han subjects. The functional regions of these genes were sequenced and comprehensively analyzed for genetic polymorphisms. Thirty variants were detected, including five novel forms. Tentative functional predictions indicated that a Cys → Arg substitution at position 277 in the UGT1A7 gene could alter the protein conformation and that 12460T > G in the 3′UTR might influence protein translation through specifically expressed miRNAs. UGT1A9*1b was a major functional variant in the subjects examined whereas the *1f allele had a frequency of only 0.5%. A special functional haplotype (GAGAAC) was identified for UGT1A9, 1A7 and 1A1. These findings provide fundamental genetic information that may serve as a basis for larger studies designed to assess the metabolic phenotypes associated with UGT1A polymorphisms. They also provide important data for the implementation of personalized medicine in Chinese Han. Sociedade Brasileira de Genética 2012 2012-05-24 /pmc/articles/PMC3389530/ /pubmed/22888291 http://dx.doi.org/10.1590/S1415-47572012005000036 Text en Copyright © 2012, Sociedade Brasileira de Genética. License information: 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 | Human and Medical Genetics Zhang, Xiaoqing Ao, Guokun Wang, Yuewen Yan, Wei Wang, Min Chen, Erfei Yang, Fangfang Yang, Jin Genetic variants and haplotypes of the UGT1A9, 1A7 and 1A1 genes in Chinese Han |
title | Genetic variants and haplotypes of the UGT1A9, 1A7 and 1A1 genes in Chinese Han |
title_full | Genetic variants and haplotypes of the UGT1A9, 1A7 and 1A1 genes in Chinese Han |
title_fullStr | Genetic variants and haplotypes of the UGT1A9, 1A7 and 1A1 genes in Chinese Han |
title_full_unstemmed | Genetic variants and haplotypes of the UGT1A9, 1A7 and 1A1 genes in Chinese Han |
title_short | Genetic variants and haplotypes of the UGT1A9, 1A7 and 1A1 genes in Chinese Han |
title_sort | genetic variants and haplotypes of the ugt1a9, 1a7 and 1a1 genes in chinese han |
topic | Human and Medical Genetics |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3389530/ https://www.ncbi.nlm.nih.gov/pubmed/22888291 http://dx.doi.org/10.1590/S1415-47572012005000036 |
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