Genetic Disorders Among Arab Populations PDF
Preview Genetic Disorders Among Arab Populations
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
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