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
Gespeichert in:
1. Verfasser: | |
---|---|
Format: | Abschlussarbeit Buch |
Sprache: | German |
Veröffentlicht: |
Würzburg
2015
|
Schlagworte: | |
Online-Zugang: | Volltext Inhaltsverzeichnis |
Beschreibung: | 155 Seiten Illustrationen, Diagramme |
Internformat
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 |
Datensatz im Suchindex
_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
*
MAXIMILIANS*UNIVERSITAET 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 DNA*SEQUENZIERUNG 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
LGMD*PANEL.....................................................................................................................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 F5*GEN 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 |