Molecular characterization of genes involved in hearing loss: = Molekulare Charakterisierung der in Hörstörungen involvierten Genen
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| 1. Verfasser: | |
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| Format: | Abschlussarbeit Buch |
| Sprache: | English |
| Veröffentlicht: |
2014
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| Schlagworte: | |
| Online-Zugang: | kostenfrei Inhaltsverzeichnis |
| Beschreibung: | Zsfassung in dt. und engl. Sprache |
| Beschreibung: | 202 Blatt Ill., graph. Darst. |
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Datensatz im Suchindex
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|---|---|
| adam_text | MOLECULAR CHARACTERIZATION OF GENES INVOLVED IN
HEARING LOSS
DISSERTATION ZUR ERLANGUNG DES
NATURWISSENSCHAFTLICHEN DOKTORGRADES
DER JULIUS-MAXIMILIANS-UNIVERSITAT WIIRZBURG
SUBMITTED BY
BARBARA C. VONA
BORN IN EDMONTON, ALBERTA, CANADA
WIIRZBURG, MAY 2014
HTTP://D-NB.INFO/1055055614
TABLE OF CONTENTS
TABLE OF CONTENTS
1. SUMMARY 1
2. ZUSAMMENFASSUNG 3
3. INTRODUCTION 5
3.1 GLOBAL BURDEN OF HEARING LOSS 5
3.2 ETIOLOGIES OF HEARING LOSS 6
3.2.1 SYNDROMIC HEARING LOSS 7
3.2.2 NON-SYNDROMIC HEARING LOSS 9
3.2.2.1 THE HISTORY OF NON-SYNDROMIC DEAFNESS LOCUS MAPPING AND
IDENTIFICATION 9
3.2.2.2 PEDIGREE ANALYSIS AND FAMILY HISTORY 12
3.2.2.3 GENE AND PROTEIN CLASSES INVOLVED IN HEARING LOSS 13
3.2.2.4 NON-SYNDROMIC HEARING LOSS GENES 14
3.2.2.4.1 THE PRIMARY RECESSIVE GENES GJB2 AND STRC 14
3.2.2.4.2 THE AUTOSOMAL DOMINANT GENE GRHL2 (DFNA28) 15
3.3 TYPES OF HEARING LOSS 16
3.4 AUDIOMETRY 17
3.5 CURRENT OVERVIEW OF HEARING LOSS CLINICAL DIAGNOSIS 19
3.6 STRATEGIES FOR MUTATION DETECTION 20
3.6.1 WHOLE-GENOME SNP ARRAY ANALYSIS 21
3.6.2 NEXT GENERATION SEQUENCING 22
3.7 MULTIPLE APPROACHES TO HEARING LOSS DIAGNOSTICS 23
4. OBJECTIVES 25
5. MATERIALS AND METHODS 26
5.1 COPY NUMBER VARIATION ANALYSIS 26
5.1.1 ILLUMINA OMNI 1 -QUAD SNP ARRAY 26
TABLE OF CONTENTS
5.1.2 CYTOGENETIC ANALYSIS 26
5.1.3 FLUORESCENT IN SITU HYBRIDIZATION 26
5.1.4 QUANTITATIVE PCR 26
5.1.5 PARENT-OF-ORIGIN DETERMINATION 27
5.2 EXPRESSION
OIATEL
AND
SLC12A1
DURING ZEBRAFISH DEVELOPMENT.27
5.2.1 ZEBRAFISH IN SITU HYBRIDIZATION 27
5.2.2 POSITIONAL CLONING OF TRANSLOCATION BREAKPOINTS 27
5.3 SANGER SEQUENCING 27
5.3.1 LONG-RANGE PCR 27
5.3.2 SANGER SEQUENCING 27
5.4
GRHL2
SPLICE SITE ANALYSIS 28
5.4.1 MRNA ISOLATION 28
5.4.2 CDNA SYNTHESIS 28
5.5 NEXT GENERATION SEQUENCING 28
5.5.1 TARGET ENRICHMENT NGS 28
5.5.2 BIOINFORMATIC ANALYSIS 28
6. SUMMARY AND DISCUSSION OF PUBLISHED RESULTS 29
6.1 TERMINAL CHROMOSOME 4Q DELETION SYNDROME: A CASE REPORT AND
MAPPING OF CRITICAL INTERVALS FOR ASSOCIATED PHENOTYPES 29
6.2 DISRUPTION OF THE
ATE1
AND
SLC12A1
GENES BY BALANCED TRANSLOCA
TION IN A BOY WITH NON-SYNDROMIC HEARING LOSS 32
6.3 DFNB16 IS A FREQUENT CAUSE OF CONGENITAL HEARING IMPAIRMENT:
IMPLEMENTATION OF
STRC
ANALYSIS IN ROUTINE DIAGNOSTICS 36
6.4 CONFIRMATION OF
GRHL2
AS THE GENE FOR THE DFNA28 LOCUS 39
6.5 TARGETED DEAFNESS GENE NEXT GENERATION SEQUENCING OF HEARING
IMPAIRED INDIVIDUALS UNCOVERS INFORMATIVE MUTATIONS 43
7. CONCLUSION AND OUTLOOK 49
8. REFERENCES 51
TABLE OF CONTENTS
9. ABBREVIATIONS 65
10. DATABASE SOURCES 72
11. LIST OF FIGURES 74
12. LIST OF TABLES 75
13. LIST OF PUBLICATIONS 76
14. LIST OF PRESENTED PUBLICATIONS 78
14.1 ATTACHMENT 1 78
14.2 ATTACHMENT 2 105
14.3 ATTACHMENT 3 119
14.4 ATTACHMENT 4 136
14.5 ATTACHMENT 5 143
15. CURRICULUM VITAE 181
16. CO-AUTHOR SIGNATURES 185
17. ACKNOWLEDGEMENTS 201
|
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| spelling | Vona, Barbara 1984- Verfasser (DE-588)1053848471 aut Molecular characterization of genes involved in hearing loss = Molekulare Charakterisierung der in Hörstörungen involvierten Genen von Barbara C. Vona Molekulare Charakterisierung der in Hörstörungen involvierten Genen 2014 202 Blatt Ill., graph. Darst. txt rdacontent n rdamedia nc rdacarrier Zsfassung in dt. und engl. Sprache Würzburg, Univ., Diss., 2014 Molekularbiologie (DE-588)4039983-7 gnd rswk-swf Hörverlust (DE-588)4125460-0 gnd rswk-swf (DE-588)4113937-9 Hochschulschrift gnd-content Molekularbiologie (DE-588)4039983-7 s Hörverlust (DE-588)4125460-0 s DE-604 Erscheint auch als Online-Ausgabe urn:nbn:de:bvb:20-opus-112170 https://nbn-resolving.org/urn:nbn:de:bvb:20-opus-112170 Resolving-System kostenfrei Volltext DNB Datenaustausch application/pdf http://bvbr.bib-bvb.de:8991/F?func=service&doc_library=BVB01&local_base=BVB01&doc_number=027425264&sequence=000001&line_number=0001&func_code=DB_RECORDS&service_type=MEDIA Inhaltsverzeichnis |
| spellingShingle | Vona, Barbara 1984- Molecular characterization of genes involved in hearing loss = Molekulare Charakterisierung der in Hörstörungen involvierten Genen Molekularbiologie (DE-588)4039983-7 gnd Hörverlust (DE-588)4125460-0 gnd |
| subject_GND | (DE-588)4039983-7 (DE-588)4125460-0 (DE-588)4113937-9 |
| title | Molecular characterization of genes involved in hearing loss = Molekulare Charakterisierung der in Hörstörungen involvierten Genen |
| title_alt | Molekulare Charakterisierung der in Hörstörungen involvierten Genen |
| title_auth | Molecular characterization of genes involved in hearing loss = Molekulare Charakterisierung der in Hörstörungen involvierten Genen |
| title_exact_search | Molecular characterization of genes involved in hearing loss = Molekulare Charakterisierung der in Hörstörungen involvierten Genen |
| title_full | Molecular characterization of genes involved in hearing loss = Molekulare Charakterisierung der in Hörstörungen involvierten Genen von Barbara C. Vona |
| title_fullStr | Molecular characterization of genes involved in hearing loss = Molekulare Charakterisierung der in Hörstörungen involvierten Genen von Barbara C. Vona |
| title_full_unstemmed | Molecular characterization of genes involved in hearing loss = Molekulare Charakterisierung der in Hörstörungen involvierten Genen von Barbara C. Vona |
| title_short | Molecular characterization of genes involved in hearing loss |
| title_sort | molecular characterization of genes involved in hearing loss molekulare charakterisierung der in horstorungen involvierten genen |
| title_sub | = Molekulare Charakterisierung der in Hörstörungen involvierten Genen |
| topic | Molekularbiologie (DE-588)4039983-7 gnd Hörverlust (DE-588)4125460-0 gnd |
| topic_facet | Molekularbiologie Hörverlust Hochschulschrift |
| url | https://nbn-resolving.org/urn:nbn:de:bvb:20-opus-112170 http://bvbr.bib-bvb.de:8991/F?func=service&doc_library=BVB01&local_base=BVB01&doc_number=027425264&sequence=000001&line_number=0001&func_code=DB_RECORDS&service_type=MEDIA |
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