Holdings: Design und Etablierung von Next Generation Sequencing-Methoden zur Diagnostik verschiedener Erbkrankheiten

Design und Etablierung von Next Generation Sequencing-Methoden zur Diagnostik verschiedener Erbkrankheiten: = Design and establishment of next-generation sequencing methods for diagnostics of different hereditary diseases

Saved in:

Bibliographic Details
Main Author:	Kuhn, Julia Elisa ca. 21. Jh (Author)
Format:	Thesis Book
Language:	German
Published:	Würzburg 2015
Subjects:	Erbkrankheit Diagnostik DNS-Sequenz Hochschulschrift
Online Access:	Volltext Inhaltsverzeichnis
Physical Description:	155 Seiten Illustrationen, Diagramme

Staff View

MARC


LEADER	00000nam a2200000 c 4500
001	BV043677999
003	DE-604
005	20160729
007	t
008	160720s2015 a\|\|\| m\|\|\| 00\|\|\| ger d
035			\|a (OCoLC)953818595
035			\|a (DE-599)BVBBV043677999
040			\|a DE-604 \|b ger \|e rda
041	0		\|a ger
049			\|a DE-384 \|a DE-473 \|a DE-703 \|a DE-1051 \|a DE-824 \|a DE-29 \|a DE-12 \|a DE-91 \|a DE-19 \|a DE-1049 \|a DE-92 \|a DE-739 \|a DE-898 \|a DE-355 \|a DE-706 \|a DE-20 \|a DE-1102
100	1		\|a Kuhn, Julia Elisa \|d ca. 21. Jh \|e Verfasser \|0 (DE-588)1107197694 \|4 aut
245	1	0	\|a Design und Etablierung von Next Generation Sequencing-Methoden zur Diagnostik verschiedener Erbkrankheiten \|b = Design and establishment of next-generation sequencing methods for diagnostics of different hereditary diseases \|c vorgelegt von Julia Elisa Kuhn, geb. Bach, geboren in Düsseldorf
246	1	1	\|a Design and establishment of next-generation sequencing methods for diagnostics of different hereditary diseases
264		1	\|a Würzburg \|c 2015
300			\|a 155 Seiten \|b Illustrationen, Diagramme
336			\|b txt \|2 rdacontent
337			\|b n \|2 rdamedia
338			\|b nc \|2 rdacarrier
502			\|b Dissertation \|c Julius-Maximilians-Universität Würzburg \|d 2015
546			\|a Zusammenfassung in deutscher und englischer Sprache
650	0	7	\|a Erbkrankheit \|0 (DE-588)4015106-2 \|2 gnd \|9 rswk-swf
650	0	7	\|a Diagnostik \|0 (DE-588)4113303-1 \|2 gnd \|9 rswk-swf
650	0	7	\|a DNS-Sequenz \|0 (DE-588)4150352-1 \|2 gnd \|9 rswk-swf
655		7	\|0 (DE-588)4113937-9 \|a Hochschulschrift \|2 gnd-content
689	0	0	\|a DNS-Sequenz \|0 (DE-588)4150352-1 \|D s
689	0	1	\|a Diagnostik \|0 (DE-588)4113303-1 \|D s
689	0	2	\|a Erbkrankheit \|0 (DE-588)4015106-2 \|D s
689	0		\|5 DE-604
776	0	8	\|i Erscheint auch als \|n Online-Ausgabe \|o urn:nbn:de:bvb:20-opus-116854
856	4	1	\|u https://nbn-resolving.org/urn:nbn:de:bvb:20-opus-116854 \|x Resolving-System \|z kostenfrei \|3 Volltext
856	4	2	\|m DNB Datenaustausch \|q application/pdf \|u http://bvbr.bib-bvb.de:8991/F?func=service&doc_library=BVB01&local_base=BVB01&doc_number=029090967&sequence=000001&line_number=0001&func_code=DB_RECORDS&service_type=MEDIA \|3 Inhaltsverzeichnis
912			\|a ebook
999			\|a oai:aleph.bib-bvb.de:BVB01-029090967

Record in the Search Index

_version_	1804176443304837120
adam_text	D ESIGN UND E TABLIERUNG VON N EXT G ENERATION S EQUENCING -* * * * ^ ZUR D IAGNOSTIK VERSCHIEDENER E RBKRANKHEITEN DISSERTATION ZUR ERLANGUNG DES NATURWISSENCHAFTLICHEN DOKTORGRADES DER JULIUS * MAXIMILIANSUNIVERSITAET WUERZBURG VORGELEGT VON JULIA ELISA KUHN GEB. BACH GEBOREN IN DUESSELDORF WUERZBURG * JUNI 2015 I N H A L T S V E R Z E I C H N I S 1 Z USAMMENFASSUNG ...................................................................................................................1 2 S UM M ARY ....................................................................................................................................3 3 E INLEITUNG ..................................................................................................................................* 3.1 NEXT GENERATION SEQUENCING IN DER HUMANGENETISCHEN DIAGNOSTIK...^ 3.2 NGS-METHODEN.................................................................................................................. 8 3.2.1 PROBENANREICHERUNG............................................................................................................ 8 3.2.2 SEQUENZIERUNG......................................................................................................................9 3.3 KRANKHEITEN UND GENE......................................................................................................11 3.3.1 HOERSTOERUNGEN UND DAS C0L4A6-GEN..............................................................................11 3.3.2 MALIGNE HYPERTHERMIE * RYRL UND ANDERE KANDIDATENGENE ......................................... 13 3.3.3 GLIEDERGUERTELDYSTROPHIEN UND DIE GENE 1 0 5 , I UND CAPN3 .. 14 3.3.4 MYOFIBRILLARE MYOPATHIEN UND IHRE KANDIDATENGENE ..................................................... 16 3.3.5 HAEMOPHILIE A UND DAS ,5 -G E N ........................................................................................ 18 3.4 ZIELSETZUNG UND INHALT DER ARBEIT ................................................................................. 21 PROJEKT 1: SCHNELLES SCREENING EINES EINZELNEN KANDIDATEN-GENS ............................................... 21 PROJEKT 2** EIN-SCHRITT-ANALYSE EINES GROSSEN G ENS.........................................................................21 PROJETO 3: SCREENING MEHRERER KANDIDATENGENE !HETEROGENE KRANKHEITSBILDER...................................22 PROJEKT 4: EXOMANALYSE.....................................................................................................................22 PROJEKT 5: ANALYSE DER KOMPLETTEN GENOMISCHEN SEQUENZ EINES GENS ......................................... 23 4 M ETHODISCHE D ETAILS ...........................................................................................................24 4.1 POLYMERASE.KETTENREAKTION (PCR) ................................................................................ 24 4.2 MARKER- BZW. HAPLOTYPANALYSE......................................................................................24 4.3 DNASEQUENZIERUNG NACH SANGER................................................................................ 24 4.4 PROBENANREICHERUNG FUER NEXT GENERATION SEQUENCING................................................25 4.4.1 ACCESS ARRAY-SYSTEM (FLUIDIGM) ............................................. 25 4.4.2 SURESELECT-SYSTEM (AGILENT^............................................................................................26 4.4.3 TRUSEQ-SYSTEM (ILLUMINA)............................................................................................... 26 4.5 NEXT GENERATION SEQUENCING.......................................................................................... 26 4.5.1 GS JUNIOR (ROCHE)............................................................................................................. 26 4.5.2 MISEQ (ILLUMINA)............................................................................................................... 26 4.5.3 HISEQ2000 (ILLUMINA).......................................................................................................26 4.6 MOLEKULARGENETISCHE DIAGNOSTIKMETHODEN DER TLA-ROUTINEDIAGNOSTIK .**26 4.7 IN VZYRO-SPLEISSANALYSE UEBER MINIGEN-KONSTRUKTE ........................................................ 26 5 Z U S I M E W A S S E I E D A R S I L U N G L I D ISKUSSION DER PUBLIRTEN E RGEBNISSE ........27 5.1 SCHNELLES SCREENING EINES EINZELNEN KANDIDATEN-GENS..............................................27 5.2 E IN -S A ITT-ANALYSE EINES GROSSEN G ENS........................................................................30 5.3 SCREENING MEHRERER KANDIDATENGENE I HETEROGENE KANKHEITSB11DER............. ....... * .....34 5.3.1 LGMDPANEL.....................................................................................................................34 5.3.2 MFM-PANEL...........................................................................................................***35 5.4 EXOMANALYSE.................................................................................................................... 40 5.5 ANALYSE DER KOMPLETTEN GENOMISCHEN SEQUENZ EINES G ENS......................................43 5.5.1 MUTATIONSSTATISTIK UND DIAGNOSTIK DER HAEMOPHILIE A....................................................43 5.5.2 IDENTIFIZIERUNG TIEFER INTRONISCHER MUTATIONEN IM F5GEN MITTELS NGS *..**45 5.5.3 MMIGEN-KONSTUKTE ZUR ANALYSE TIEFER INTONISCHER VARIANTEN IM F5-GEN.........................51 5.6 FAZIT UND AUSBLICK...........................................................................................................55 6 L ITERATURVERZEICHNIS ..........................................................................................................57 7 A BKUERZUNGSVERZEICHNIS ..................................................................................................... 69 8 V ERWENDETE D ATENBANKEN UND O NLINE -T OOLS ............................................................. 72 9 L ISTE DER VORGELEGTEN P UBLIKATIONEN ............................................................................... 73 10 SONDEPOERUCKE DER VORGELEGTEN P UBLIKATIO NEN ...................................................... 75 ANLAGE 1 ....................................................................................................... ANLAGE 2 ........................................................................................................................................ 93 ANLAGE 3 ...................................................................................................................................... 103 ANLAGE 4 .............................................................................. 119 ANLAGE 5 ...................................................................................................................................... 130 ANLAGE 6 ...................................................................................................................................... 135 ANLAGE 7 ................................................................................................. 1 1
any_adam_object	1
author	Kuhn, Julia Elisa ca. 21. Jh
author_GND	(DE-588)1107197694
author_facet	Kuhn, Julia Elisa ca. 21. Jh
author_role	aut
author_sort	Kuhn, Julia Elisa ca. 21. Jh
author_variant	j e k je jek
building	Verbundindex
bvnumber	BV043677999
collection	ebook
ctrlnum	(OCoLC)953818595 (DE-599)BVBBV043677999
format	Thesis Book
fullrecord	<?xml version="1.0" encoding="UTF-8"?><collection xmlns="http://www.loc.gov/MARC21/slim"><record><leader>02214nam a2200421 c 4500</leader><controlfield tag="001">BV043677999</controlfield><controlfield tag="003">DE-604</controlfield><controlfield tag="005">20160729 </controlfield><controlfield tag="007">t</controlfield><controlfield tag="008">160720s2015 a\|\|\| m\|\|\| 00\|\|\| ger d</controlfield><datafield tag="035" ind1=" " ind2=" "><subfield code="a">(OCoLC)953818595</subfield></datafield><datafield tag="035" ind1=" " ind2=" "><subfield code="a">(DE-599)BVBBV043677999</subfield></datafield><datafield tag="040" ind1=" " ind2=" "><subfield code="a">DE-604</subfield><subfield code="b">ger</subfield><subfield code="e">rda</subfield></datafield><datafield tag="041" ind1="0" ind2=" "><subfield code="a">ger</subfield></datafield><datafield tag="049" ind1=" " ind2=" "><subfield code="a">DE-384</subfield><subfield code="a">DE-473</subfield><subfield code="a">DE-703</subfield><subfield code="a">DE-1051</subfield><subfield code="a">DE-824</subfield><subfield code="a">DE-29</subfield><subfield code="a">DE-12</subfield><subfield code="a">DE-91</subfield><subfield code="a">DE-19</subfield><subfield code="a">DE-1049</subfield><subfield code="a">DE-92</subfield><subfield code="a">DE-739</subfield><subfield code="a">DE-898</subfield><subfield code="a">DE-355</subfield><subfield code="a">DE-706</subfield><subfield code="a">DE-20</subfield><subfield code="a">DE-1102</subfield></datafield><datafield tag="100" ind1="1" ind2=" "><subfield code="a">Kuhn, Julia Elisa</subfield><subfield code="d">ca. 21. Jh</subfield><subfield code="e">Verfasser</subfield><subfield code="0">(DE-588)1107197694</subfield><subfield code="4">aut</subfield></datafield><datafield tag="245" ind1="1" ind2="0"><subfield code="a">Design und Etablierung von Next Generation Sequencing-Methoden zur Diagnostik verschiedener Erbkrankheiten</subfield><subfield code="b">= Design and establishment of next-generation sequencing methods for diagnostics of different hereditary diseases</subfield><subfield code="c">vorgelegt von Julia Elisa Kuhn, geb. Bach, geboren in Düsseldorf</subfield></datafield><datafield tag="246" ind1="1" ind2="1"><subfield code="a">Design and establishment of next-generation sequencing methods for diagnostics of different hereditary diseases</subfield></datafield><datafield tag="264" ind1=" " ind2="1"><subfield code="a">Würzburg</subfield><subfield code="c">2015</subfield></datafield><datafield tag="300" ind1=" " ind2=" "><subfield code="a">155 Seiten</subfield><subfield code="b">Illustrationen, Diagramme</subfield></datafield><datafield tag="336" ind1=" " ind2=" "><subfield code="b">txt</subfield><subfield code="2">rdacontent</subfield></datafield><datafield tag="337" ind1=" " ind2=" "><subfield code="b">n</subfield><subfield code="2">rdamedia</subfield></datafield><datafield tag="338" ind1=" " ind2=" "><subfield code="b">nc</subfield><subfield code="2">rdacarrier</subfield></datafield><datafield tag="502" ind1=" " ind2=" "><subfield code="b">Dissertation</subfield><subfield code="c">Julius-Maximilians-Universität Würzburg</subfield><subfield code="d">2015</subfield></datafield><datafield tag="546" ind1=" " ind2=" "><subfield code="a">Zusammenfassung in deutscher und englischer Sprache</subfield></datafield><datafield tag="650" ind1="0" ind2="7"><subfield code="a">Erbkrankheit</subfield><subfield code="0">(DE-588)4015106-2</subfield><subfield code="2">gnd</subfield><subfield code="9">rswk-swf</subfield></datafield><datafield tag="650" ind1="0" ind2="7"><subfield code="a">Diagnostik</subfield><subfield code="0">(DE-588)4113303-1</subfield><subfield code="2">gnd</subfield><subfield code="9">rswk-swf</subfield></datafield><datafield tag="650" ind1="0" ind2="7"><subfield code="a">DNS-Sequenz</subfield><subfield code="0">(DE-588)4150352-1</subfield><subfield code="2">gnd</subfield><subfield code="9">rswk-swf</subfield></datafield><datafield tag="655" ind1=" " ind2="7"><subfield code="0">(DE-588)4113937-9</subfield><subfield code="a">Hochschulschrift</subfield><subfield code="2">gnd-content</subfield></datafield><datafield tag="689" ind1="0" ind2="0"><subfield code="a">DNS-Sequenz</subfield><subfield code="0">(DE-588)4150352-1</subfield><subfield code="D">s</subfield></datafield><datafield tag="689" ind1="0" ind2="1"><subfield code="a">Diagnostik</subfield><subfield code="0">(DE-588)4113303-1</subfield><subfield code="D">s</subfield></datafield><datafield tag="689" ind1="0" ind2="2"><subfield code="a">Erbkrankheit</subfield><subfield code="0">(DE-588)4015106-2</subfield><subfield code="D">s</subfield></datafield><datafield tag="689" ind1="0" ind2=" "><subfield code="5">DE-604</subfield></datafield><datafield tag="776" ind1="0" ind2="8"><subfield code="i">Erscheint auch als</subfield><subfield code="n">Online-Ausgabe</subfield><subfield code="o">urn:nbn:de:bvb:20-opus-116854</subfield></datafield><datafield tag="856" ind1="4" ind2="1"><subfield code="u">https://nbn-resolving.org/urn:nbn:de:bvb:20-opus-116854</subfield><subfield code="x">Resolving-System</subfield><subfield code="z">kostenfrei</subfield><subfield code="3">Volltext</subfield></datafield><datafield tag="856" ind1="4" ind2="2"><subfield code="m">DNB Datenaustausch</subfield><subfield code="q">application/pdf</subfield><subfield code="u">http://bvbr.bib-bvb.de:8991/F?func=service&doc_library=BVB01&local_base=BVB01&doc_number=029090967&sequence=000001&line_number=0001&func_code=DB_RECORDS&service_type=MEDIA</subfield><subfield code="3">Inhaltsverzeichnis</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">ebook</subfield></datafield><datafield tag="999" ind1=" " ind2=" "><subfield code="a">oai:aleph.bib-bvb.de:BVB01-029090967</subfield></datafield></record></collection>
genre	(DE-588)4113937-9 Hochschulschrift gnd-content
genre_facet	Hochschulschrift
id	DE-604.BV043677999
illustrated	Illustrated
indexdate	2024-07-10T07:32:16Z
institution	BVB
language	German
oai_aleph_id	oai:aleph.bib-bvb.de:BVB01-029090967
oclc_num	953818595
open_access_boolean	1
owner	DE-384 DE-473 DE-BY-UBG DE-703 DE-1051 DE-824 DE-29 DE-12 DE-91 DE-BY-TUM DE-19 DE-BY-UBM DE-1049 DE-92 DE-739 DE-898 DE-BY-UBR DE-355 DE-BY-UBR DE-706 DE-20 DE-1102
owner_facet	DE-384 DE-473 DE-BY-UBG DE-703 DE-1051 DE-824 DE-29 DE-12 DE-91 DE-BY-TUM DE-19 DE-BY-UBM DE-1049 DE-92 DE-739 DE-898 DE-BY-UBR DE-355 DE-BY-UBR DE-706 DE-20 DE-1102
physical	155 Seiten Illustrationen, Diagramme
psigel	ebook
publishDate	2015
publishDateSearch	2015
publishDateSort	2015
record_format	marc
spelling	Kuhn, Julia Elisa ca. 21. Jh Verfasser (DE-588)1107197694 aut Design und Etablierung von Next Generation Sequencing-Methoden zur Diagnostik verschiedener Erbkrankheiten = Design and establishment of next-generation sequencing methods for diagnostics of different hereditary diseases vorgelegt von Julia Elisa Kuhn, geb. Bach, geboren in Düsseldorf Design and establishment of next-generation sequencing methods for diagnostics of different hereditary diseases Würzburg 2015 155 Seiten Illustrationen, Diagramme txt rdacontent n rdamedia nc rdacarrier Dissertation Julius-Maximilians-Universität Würzburg 2015 Zusammenfassung in deutscher und englischer Sprache Erbkrankheit (DE-588)4015106-2 gnd rswk-swf Diagnostik (DE-588)4113303-1 gnd rswk-swf DNS-Sequenz (DE-588)4150352-1 gnd rswk-swf (DE-588)4113937-9 Hochschulschrift gnd-content DNS-Sequenz (DE-588)4150352-1 s Diagnostik (DE-588)4113303-1 s Erbkrankheit (DE-588)4015106-2 s DE-604 Erscheint auch als Online-Ausgabe urn:nbn:de:bvb:20-opus-116854 https://nbn-resolving.org/urn:nbn:de:bvb:20-opus-116854 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=029090967&sequence=000001&line_number=0001&func_code=DB_RECORDS&service_type=MEDIA Inhaltsverzeichnis
spellingShingle	Kuhn, Julia Elisa ca. 21. Jh Design und Etablierung von Next Generation Sequencing-Methoden zur Diagnostik verschiedener Erbkrankheiten = Design and establishment of next-generation sequencing methods for diagnostics of different hereditary diseases Erbkrankheit (DE-588)4015106-2 gnd Diagnostik (DE-588)4113303-1 gnd DNS-Sequenz (DE-588)4150352-1 gnd
subject_GND	(DE-588)4015106-2 (DE-588)4113303-1 (DE-588)4150352-1 (DE-588)4113937-9
title	Design und Etablierung von Next Generation Sequencing-Methoden zur Diagnostik verschiedener Erbkrankheiten = Design and establishment of next-generation sequencing methods for diagnostics of different hereditary diseases
title_alt	Design and establishment of next-generation sequencing methods for diagnostics of different hereditary diseases
title_auth	Design und Etablierung von Next Generation Sequencing-Methoden zur Diagnostik verschiedener Erbkrankheiten = Design and establishment of next-generation sequencing methods for diagnostics of different hereditary diseases
title_exact_search	Design und Etablierung von Next Generation Sequencing-Methoden zur Diagnostik verschiedener Erbkrankheiten = Design and establishment of next-generation sequencing methods for diagnostics of different hereditary diseases
title_full	Design und Etablierung von Next Generation Sequencing-Methoden zur Diagnostik verschiedener Erbkrankheiten = Design and establishment of next-generation sequencing methods for diagnostics of different hereditary diseases vorgelegt von Julia Elisa Kuhn, geb. Bach, geboren in Düsseldorf
title_fullStr	Design und Etablierung von Next Generation Sequencing-Methoden zur Diagnostik verschiedener Erbkrankheiten = Design and establishment of next-generation sequencing methods for diagnostics of different hereditary diseases vorgelegt von Julia Elisa Kuhn, geb. Bach, geboren in Düsseldorf
title_full_unstemmed	Design und Etablierung von Next Generation Sequencing-Methoden zur Diagnostik verschiedener Erbkrankheiten = Design and establishment of next-generation sequencing methods for diagnostics of different hereditary diseases vorgelegt von Julia Elisa Kuhn, geb. Bach, geboren in Düsseldorf
title_short	Design und Etablierung von Next Generation Sequencing-Methoden zur Diagnostik verschiedener Erbkrankheiten
title_sort	design und etablierung von next generation sequencing methoden zur diagnostik verschiedener erbkrankheiten design and establishment of next generation sequencing methods for diagnostics of different hereditary diseases
title_sub	= Design and establishment of next-generation sequencing methods for diagnostics of different hereditary diseases
topic	Erbkrankheit (DE-588)4015106-2 gnd Diagnostik (DE-588)4113303-1 gnd DNS-Sequenz (DE-588)4150352-1 gnd
topic_facet	Erbkrankheit Diagnostik DNS-Sequenz Hochschulschrift
url	https://nbn-resolving.org/urn:nbn:de:bvb:20-opus-116854 http://bvbr.bib-bvb.de:8991/F?func=service&doc_library=BVB01&local_base=BVB01&doc_number=029090967&sequence=000001&line_number=0001&func_code=DB_RECORDS&service_type=MEDIA
work_keys_str_mv	AT kuhnjuliaelisa designundetablierungvonnextgenerationsequencingmethodenzurdiagnostikverschiedenererbkrankheitendesignandestablishmentofnextgenerationsequencingmethodsfordiagnosticsofdifferenthereditarydiseases AT kuhnjuliaelisa designandestablishmentofnextgenerationsequencingmethodsfordiagnosticsofdifferenthereditarydiseases

Holdings

There is no print copy available.

Interlibrary loan Place Request Caution: Not in THWS collection! Get full text

MARC

Record in the Search Index

There is no print copy available.

Similar Items