Local sequence determinants of two in-frame triplet deletion/duplication hotspots in the RHD/RHCE genes.

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作者信息

Chen Jian-Min, Cooper David N, Férec Claude

出版信息

Hum Genomics. 2012 Aug 2;6(1):8. doi: 10.1186/1479-7364-6-8.

DOI:10.1186/1479-7364-6-8

PMID:23245726

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC3500233/

Abstract

摘要

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/5619/3500233/5af21c727c73/1479-7364-6-8-1.jpg

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本文引用的文献

On the sequence-directed nature of human gene mutation: the role of genomic architecture and the local DNA sequence environment in mediating gene mutations underlying human inherited disease.

Hum Mutat. 2011 Oct;32(10):1075-99. doi: 10.1002/humu.21557. Epub 2011 Sep 2.

RhD variant caused by an in-frame triplet duplication in the RHD gene.

Transfusion. 2011 Mar;51(3):570-3. doi: 10.1111/j.1537-2995.2010.02856.x. Epub 2010 Aug 24.

RHCE alleles detected after weak and/or discrepant results in automated Rh blood grouping of blood donors in Northern Germany.

Transfusion. 2009 Sep;49(9):1803-11. doi: 10.1111/j.1537-2995.2009.02221.x. Epub 2009 May 18.

Gene conversion causing human inherited disease: evidence for involvement of non-B-DNA-forming sequences and recombination-promoting motifs in DNA breakage and repair.

Hum Mutat. 2009 Aug;30(8):1189-98. doi: 10.1002/humu.21020.

In-frame triplet deletions in RHD alter the D antigen phenotype.

Transfusion. 2006 Dec;46(12):2156-61. doi: 10.1111/j.1537-2995.2006.01046.x.

Microdeletions and microinsertions causing human genetic disease: common mechanisms of mutagenesis and the role of local DNA sequence complexity.

Hum Mutat. 2005 Sep;26(3):205-13. doi: 10.1002/humu.20212.

Complex gene rearrangements caused by serial replication slippage.

Hum Mutat. 2005 Aug;26(2):125-34. doi: 10.1002/humu.20202.

Deletion of arginine codon 229 in the Rhce gene alters e and f but not c antigen expression.

Transfusion. 2004 Mar;44(3):391-8. doi: 10.1111/j.1537-2995.2004.00650.x.

Context of deletions and insertions in human coding sequences.

Hum Mutat. 2004 Feb;23(2):177-185. doi: 10.1002/humu.10312.

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