proposal of 19 july 2007 proposed terminology 2007
play

Towards a blood group allele terminology for the 21 st century Disclaimer. The views expressed do not necessarily represent the view of the National Institutes of Health, the Department of Health and Human Services, or the U.S. Federal

0 downloads 1 Views 259 KB Size Report
  1. Towards a blood group allele terminology for the 21 st century • Disclaimer. The views expressed do not necessarily represent the view of the National Institutes of Health, the Department of Health and Human Services, or the U.S. Federal Government. W. A. Flegel MD • Disclosure. RHD genotyping: royalties and intellectual property rights Chief, Laboratory Services Section, Dept. Transfusion Medicine, Clinical Center • Immucor: Scientific Advisory Board (BioArray) National Institutes of Health, Bethesda, Maryland Proposal of 19 July 2007 Proposed terminology 2007 • Has been sent to all attendees of the 17 July 2007 teleconference – Geoff D, Jill S – Martin O, Marion R, Connie W, Teresa Z Martin O Marion R Connie W Teresa Z • Has been labeled as “proposal” Proposed terminology 2007 Proposed terminology 2007 • Has been sent to all attendees of the • Has been sent to all attendees of the 17 July 2007 teleconference 17 July 2007 teleconference • Has been labeled as “proposal” • Has been labeled as “proposal” • Has not been distributed to the other H t b di t ib t d t th th • Has not been distributed to the other H t b di t ib t d t th th members of the ISBT terminology WP members of the ISBT terminology WP – until 22 Dec 2011 – until 22 Dec 2011 – after I filed a complaint on 2 Dec 2011 • Has not been discussed – until today 1

  2. Vox Sang 2011 proposal Email 12 March 2012 to all • The democratic process requires • I am concerned about the Vox Sang 2011 terminology proposal, – that proper hearing is given to all involved parties and their views • because it puts us in a bind and – before a proposal is brought before a proposal is brought • imposes restrictions i t i ti to a vote for approval – which may unnecessarily inhibit the further • The petite group did not give proper hearing development over time. • did not allow the presentation of other views • The gist of my 2007 terminology proposal is – eg. terminology proposal 2007 • avoidance of these unnecessary restrictions. Key elements Key elements proposed terminology 2007 proposed terminology 2007 • One name per allele • One name per allele • Lead “0” can be omitted • Vox Sang 2011 proposal: • Examples – 2 or more names per allele • RHD *001.000.000.000 = RHD *1 • RHD *003.001.001.001 = RHD *3.1.1.1 Key elements Key elements proposed terminology 2007 proposed terminology 2007 • One name per allele • One name per allele • Numerical terminology: RHD *1.1.1.1 – Unique allele identifier • Numerical terminology: RHD *1.1.1.1 – No letters – All parts with numbers only are mandatory All t ith b l d t 2

  3. Optional suffix for serologic Example for RHD consensus and other information • Serologic information • RHD consensus = Eurasian D cluster – not critical for definition of an allele • RHD *001.000.000.000 • Serologic evidence may change • RHD *1 (shorthand) & will improve over time & will improve over time • Can be extensive • Suffix information can be provided on a website – where it can be updated & even changed Examples for D clusters Examples for Eurasian D • RHD *1 RHD consensus • RHD *1.0 RHD consensus • RHD *2 DIVa cluster • RHD *1.1 group of Eurasian partial D • RHD *3 DAU cluster • RHD *1.2 D category group • RHD *4 weak D type 4 cluster • RHD *1.3 group of Eurasian weak D types • RHD *1.4 group of Eurasian D neg & DEL Examples for Eurasian D Examples for Eurasian D • RHD *1.0 RHD consensus • RHD *1.0 RHD consensus • RHD *1.1 group of Eurasian partial D • RHD *1.1 group of Eurasian partial D – RHD *1.1.1 DNB (is frequent) • RHD *1.2 D category group – RHD *1.2.2 D category II – RHD *1.2.6 D category VI – RHD *1.2.7 D category VII 3

  4. Examples for Eurasian D Examples for Eurasian D • RHD *1.0 RHD consensus • RHD *1.0 RHD consensus • RHD *1.1 group of Eurasian partial D • RHD *1.1 group of Eurasian partial D • RHD *1.2 D category group • RHD *1.2 D category group – RHD *1.2.2 D category II • RHD *1.3 group of Eurasian weak D types – RHD *1.2.6 D category VI – RHD *1.3.1 weak D type 1 • RHD *1.2.6.1 D category VI type 1 – RHD *1.3.1.1 weak D type 1.1 • RHD *1.2.6.2 D category VI type 2 • RHD *1.2.6.3 D category VI type 3 • RHD *1.2.6.4 D category VI type 4 – RHD *1.2.7 D category VII Examples for Eurasian D Example for suffix • RHD *1.0 RHD consensus • RHD *1.0 RHD consensus • RHD *1.1 group of Eurasian partial D • RHD *1.1 group of Eurasian partial D – RHD *1.1.1 DNB • RHD *1.2 D category group • RHD *1.3 group of Eurasian weak D types – RHD *1.1.1.dnb • RHD *1.4 group of Eurasian D neg & DEL – RHD *1.4.1 RHD (K409K) (most frequent) – RHD *1.4.2 RHD (IVS3+1G>A) (2 nd most frequ.) Allele terminology should Allele terminology best be based on alleles • Should best be based on alleles RHD & RHCE RHD & RHCE Duffy Duffy • Will benefit from knowledge on the relationship between alleles (phylogeny) • Serology is an adjunct S l i dj t • Transfusion 2009;49:1056 & 2012;52:1260 4

  5. Allele terminology Allele terminology • Should best be based on alleles • Should best be based on alleles • Will benefit from knowledge on the • Will benefit from knowledge on the relationship between alleles (phylogeny) relationship between alleles (phylogeny) • Serology is an adjunct S l i dj t • Serology is an adjunct S l i dj t – Important • Serology will often be unknown, – Yet, serology cannot determine the allele when novel alleles are detected terminology and need a name Example for an Example for an implementation implementation • Problems of Vox Sang 2011 proposal • Problems of Vox Sang 2011 proposal • Two names for the same allele • Two names for the same allele • Serologic identifiers in the name • Serologic identifiers in the name Comparison Summary and outlook Proposed terminology Proposed terminology • Working party shall refrain from approving 2007 Vox Sang. 2011 the Vox Sang. 2011 proposal. • Molecular biology • Serology “leads” information “leads” • It would be best to start from scratch. • Alleles are sorted in a • Alleles are “defined” by a • The group of individuals assigned to Th f i di id l i d t “nested” approach rather arbitrary serology • Sorting is useful for • Sorting disregards address RH allele nomenclature should be molecular testing & molecular reporting inclusive and open to all interested reporting issues working party members. • Suffixes can be used for • Serology is squeezes into serologic description the terminology and cannot be changed – if desired 5

Recommend Documents


a proposal to extend and enrich the a proposal to extend
A Proposal to Extend and Enrich the A

First International Workshop on Evaluating Information Access (E First

tyumen 2007
Tyumen 2007 International Geoscience

Tyumen 2007 International Geoscience Conference Tyumen, Russia 4-7 December

del monte foods
DEL MONTE FOODS 2007 ANALYST AND

DEL MONTE FOODS 2007 ANALYST AND INVESTOR DAY JULY 10, 2007 DEL MONTE FOODS

macquarie bank limited
Macquarie Bank Limited 2007 Annual

Macquarie Bank Limited 2007 Annual General Meeting 19 July 2007 Macquarie

hrvoc stakeholder group meeting
HRVOC Stakeholder Group Meeting July

HRVOC Stakeholder Group Meeting July 23, 2007 Air Quality Planning Section

transport and mixing in q2d dimension atmospheric flow
Transport and mixing in Q2D-dimension

The Workshop International Conference CITES CITES- -2007 2007

interim performance presentation
Interim Performance Presentation Q1

Interim Performance Presentation Q1 2007 : quarter ended 31 st March 2007 15 th

first quarter 2007 consolidated results
First Quarter 2007 Consolidated

First Quarter 2007 Consolidated Results Milan, May 10th, 2007 Index First

30nc10 lower tier ii debt issuance
30NC10 LOWER TIER II DEBT ISSUANCE

30NC10 LOWER TIER II DEBT ISSUANCE Presentation to fixed income investors

kde school using freenx
KDE@School (using FreeNX) aKademy 2007

KDE@School (using FreeNX) aKademy 2007 3 rd of July Mario Fux The Overview

slide 1 genomic research presentation at international
Slide 1 GENOMIC RESEARCH PRESENTATION

Slide 1 GENOMIC RESEARCH PRESENTATION AT INTERNATIONAL YAK ASSOCIATION 2018

unintended catalyst the effects of 1999 and 2001 fbi str
Unintended Catalyst: the Effects of

Unintended Catalyst: the Effects of 1999 and 2001 FBI STR Population Data

the hardy weinberg principle
The Hardy-Weinberg Principle Essential

The Hardy-Weinberg Principle Essential Learning Objectives 1.A.1 (g) and

corporate presentation
Corporate Presentation March 2020

Corporate Presentation March 2020 Forward-Looking Statements Except for the

testing for
Testing for Monogenic/Single Gene

Preimplantation Genetic Testing for Monogenic/Single Gene Disoders (PGT-M,

natural selection and gene frequency what is that
NATURAL SELECTION AND GENE FREQUENCY

NATURAL SELECTION AND GENE FREQUENCY WHAT IS THAT? Natural selection is a

crazy traits
Crazy Traits VSVS Training Manual

Crazy Traits VSVS Training Manual 2018-2019 VINSE/VSVS Rural Introduction

are detoxification gene mutations associated with
ARE DETOXIFICATION GENE MUTATIONS

ARE DETOXIFICATION GENE MUTATIONS ASSOCIATED WITH INSECTICIDE RESISTANCE IN

pseudohypoparathyroidism
Pseudohypoparathyroidism: Case

Pseudohypoparathyroidism: Case Presentation and Literature Review Aristides

differences in a biomarker s predictive ability across
Differences in a biomarkers predictive

Differences in a biomarkers predictive ability across racial groups Steve

pharmacogenomics what
Pharmacogenomics: What pharmacists

Pharmacogenomics: What pharmacists need to know in a changing therapeutic

system for annotating populations in in
system for annotating populations in

Standardized bio iogeographic grouping system for annotating populations in