Genetic Disorders Among Arab Populations

776 Pages·2010·8.366 MB·English

by  Ahmad S. Teebi (auth.), Ahmad S. Teebi (eds.)

Genetic Disorders Among Arab Populations
.
Ahmad S. Teebi
Editor
Genetic Disorders Among
Arab Populations
Second Edition
Editor
AhmadS.Teebi
WeillCornellMedicalCollegeinQatar
QatarFoundation
Doha
EducationCity
Qatar
[email protected]
FirsteditionpublishedbyOxfordUniversityPress,1997.
ISBN978-3-642-05079-4 e-ISBN978-3-642-05080-0
DOI10.1007/978-3-642-05080-0
SpringerHeidelbergDordrechtLondonNewYork
LibraryofCongressControlNumber:2010932676
#Springer-VerlagBerlinHeidelberg2010
Thisworkissubjecttocopyright.Allrightsarereserved,whetherthewholeorpartofthematerialis
concerned,specificallytherightsoftranslation,reprinting,reuseofillustrations,recitation,broadcasting,
reproductiononmicrofilmorinanyotherway,andstorageindatabanks.Duplicationofthispublication
orpartsthereofispermittedonlyundertheprovisionsoftheGermanCopyrightLawofSeptember9,
1965,initscurrentversion,andpermissionforusemustalwaysbeobtainedfromSpringer.Violations
areliabletoprosecutionundertheGermanCopyrightLaw.
Theuseofgeneraldescriptivenames,registerednames,trademarks,etc.inthispublicationdoesnot
imply,evenintheabsenceofaspecificstatement,thatsuchnamesareexemptfromtherelevantprotective
lawsandregulationsandthereforefreeforgeneraluse.
Coverdesign:WMXDesignGmbH,Heidelberg,Germany
Printedonacid-freepaper
SpringerispartofSpringerScience+BusinessMedia(www.springer.com)
Tomyparents,brothersandsisters,andmychildrenSaeed,Basel,AsilandAsma
andthewholeArabFamily.
.
Acknowledgements
The editor is grateful to the authors of the individual chapters who welcomed the
initiative and were keen to provide their contributions on time. Special thanks to
Professor Charles R. Scriver, who made the effort to write the foreword to this
book.IamthankfultomywifeMrs.AmalTeebiforherencouragementandsupport
andtoSaeedTeebiforhisassistanceinsomepartsofthemanuscript.
The assistance of Mrs. Mariette D’ Souza, Gemma Fabricante and Martin
Marion from Weill Cornell Medical College in Qatar, in preparation of some
chaptersandmaps,isgreatlyappreciated.
IexpressmygratitudealsotoSpringerpressandinparticulartoAndreaPillman
andUrsulaGrammfortheirhelpinthepublicationofthisbook.
vii
.
Foreword
Genetic Disorders among Arab Populations by Ahmad S. Teebi and co-authors
appearshereinitssecondedition.Thefirstedition(in1997)showshowonecould
tap into a rich load of information on human and medical genetics, a source
probably too little mined until now. One can be pleased that the first edition was
warmly welcomed by Prof. Victor McKusick, the author of the Foreword to that
edition.Theauthorsofthiseditionhavetakenpainstoremindusagainthatpersons
andpatients,andthecorrespondingfamiliesandcommunities,representastreamof
humanhistoryandaregionoftheworldthatembracesethnic,culturalandreligious
attributesmorediversethanwemighthaveimagined,yetwithacommonalitythat
gives “coherence to an account of it and a usefulness [when it is considered] as a
unit”(VAMcKusick,Forewordtofirstedition).
Arab populations have their repertoire of genetic disorders, both universal and
particular. Genetic diversity within these source populations, along with the fact
thatratesofinbreedingareoftenhighandfamilysizesareoftenlarge,constitutes
conditions that facilitate the emergence and detection of phenotypes explained
notablybyautosomalrecessiveinheritance,inwhichcase,theuseofhomozygosity
genemappingwillfacilitatediscoveryofthecorrespondinggenes.Meanwhile,the
intervalbetweenthepublicationofthefirstandsecondeditionsofgeneticdisorders
has witnessed emergence of the Middle East Genetic Association ofAmerica and
thecreationofethnic(Arabic)-related,locus-specificmutationdatabasestoserveas
nodes in the network of related interests. Driven by relevant research interests,
initiativesareemergingintheArabicworldtoaddressissuessuchastaxonomyand
fine-graineddescriptionsofvariantdiseasephenotypes,theirorigins,distributions
and frequencies in populations, their molecular infrastructure, and with a better
knowledge of their pathogenetic processes, better opportunities to address coun-
seling,preventionandtreatment.
Theauthorsofthesecondeditionhaveagainchosennottoprovideanexhaustive
listofrelevantgeneticdisorders;thatcanbedoneeventuallywhenthereisacurated
onlinedatabase.Rather,theauthorsagainhighlightvariousissuesandperspectives
that can be seen through the windows offered by a number of prevalent genetic
disorders in the Arabic world. Accordingly, the attitudes and responses generated
ix