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

Jian-Min Chen1*, David N Cooper2 and Claude Férec1

Author Affiliations

1 Etablissement Français du Sang (EFS) – Bretagne and INSERM, U1078, Brest, France

2 Institute of Medical Genetics, Cardiff University, Cardiff, CF14 4XN, UK

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Human Genomics 2012, 6:8  doi:10.1186/1479-7364-6-8

Published: 2 August 2012

First paragraph (this article has no abstract)

Different types of human gene mutation can vary in size quite dramatically (e.g., single nucleotide substitutions vs. copy number variations), but what they all have in common is that their occurrence is often closely bound up with specific characteristics of the local DNA sequence environment [1]. Here, we highlight the importance of local sequence features that underlie the two in-frame triplet deletion/duplication hotspots in the cis-linked, highly homologous RHD and RHCE paralogs.