Random survey for RH allele polymorphism among 50 native Tibetans [Elektronische Ressource] / presented by Qing Wei

Qingwei

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• Gesundheit

Informations

• Publié par: universitat_ulm
• Publié le: 01 janvier 2006
• Nombre de lectures: 5
• Langue: English
• Poids de l'ouvrage: 1 Mo

Extrait

Aus der Medizinischen Klinik und Poliklinik
der Universität Ulm



Abteilung Transfusionsmedizin
(Direktor: Prof. Dr. med. H. Schrezenmeier)


Random survey for RH allele
polymorphism among 50 native Tibetans




Dissertation
for the attainment of the
Doctor Degree of Medicine (Dr. med.)
at the Faculty of Medicine, University of Ulm






Presented by Qing Wei
born in Yichang, Hubei, P. R. China




2006




























Amtierender Dekan: Prof. Dr. med. Klaus-Michael Debatin

1. Berichterstatter: Prof. Dr. med. Willy A. Flegel

2. Berichterstatter: Priv.-Doz. Dr. med. Michael Schmitt





Tag der Promotion: 15. 12. 2006





Content
Content
Abbreviations................................................................................................ III
1 Introduction .............................................................................................. 1
1.1 Rh blood group system................................................................................................. 1
1.2 Haplotypes, genotypes and phenotypes................................................................. 4
1.2.1 The frequency of Rh haplotypes and phenotypes in Chinese Han and Tibetan
nationalities···································································································· 4
1.3 D antigen............................................................................................................................. 6
1.4 RHD polymorphism......................................................................................................... 6
1.4.1 D negative phenotype ···················································································· 6
1.4.2 Population survey ·························································································· 7
1.5 Variant of antigen D........................................................................................................... 9
1.5.1 Weak D·········································································································· 9
1.5.2 DEL ··············································································································· 9
1.5.3 Partial D······································································································· 10
1.6 Clinical importance of the antigen D ...................................................................... 10
1.7 Rationale and aim of the study................................................................................. 11
1.7.1 PCR-SSP for RHCE genotype ····································································· 12
1.7.2 PCR-RFLP for RHD gene zygosity······························································· 12
1.7.3 Nucleotide sequencing of 10 RHD exons and 10 RHCE exons···················· 12
2 Materials and Methods........................................................................... 13
2.1 Blood samples................................................................................................................ 13
2.2 Immunohematology...................................................................................................... 13
2.3 Extraction of DNA.......................................................................................................... 14
2.4 Polymerase chain reaction with sequence-specific priming (PCR-SSP) ... 15
2.5 Nucleotide sequencing of 10 RHD and 10 RHCE exons from genomic DNA... 16
2.5.1 Polymerase chain reaction (PCR)································································ 17
2.5.2 Purification of PCR products ········································································ 17
2.5.3 Cycle sequencing························································································· 20
2.5.4 DNA precipitation ························································································· 22
2.5.5 DNA sequencing ····