Molekulare Analyse des BRCA1-Gens in 61 deutschen Familien mit Mamma- und Ovarialkarzinomen:
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| Main Author: | |
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| Format: | Book |
| Language: | German |
| Published: |
1998
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| Subjects: | |
| Online Access: | Inhaltsverzeichnis |
| Item Description: | Heidelberg, Univ., Diss., 1998 (Nicht für den Austausch) |
| Physical Description: | 120 Bl. Ill., graph. Darst. |
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Record in the Search Index
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1
CONTENTS. 1
1. LIST OF ABBREVIATIONS. 3
2. SUMMARY. 5
3. INTRODUCTION. 6
3.1 EPIDEMIOLOGY OF BREAST CANCER. 6
3.2 THE
BRCA1 GENE AND BREAST AND/OR OVARIAN CANCER. 8
3.3 GENETIC COUNSELING AND PATIENT MANAGEMENT. 13
3.4 AIM OF THE WORK. 15
4. RESULTS. 17
4.1 FAMILIES AND PATIENTS. 17
4.2 ANALYSIS OF THE
BRCAI GENE. 20
4.3 STRATEGY USED TO SCREEN FOR MUTATIONS IN THE
BRCAI GENE. 27
4.4 DISTRIBUTION OF MUTATIONS IN THE
BRCAI GENE AND CHARACTERISTICS. 27
4.5 DESCRIPTION OF THE FAMILIES WITH
BRCAI MUTATIONS. 30
4.6 HAPLOTYPE ANALYZED FAMILIES AND MUTATIONS. 60
4.7 CHARACTERISTICS OF THE FRAMESHIFT/NONSENSE MUTATIONS. 61
4.8 THE PRESENCE OF
BRCAI MUTATIONS IN FAMILY MEMBERS. 61
4.9 THE PERCENTAGE OF FEMALE CARRIER WITH BREAST CANCER IN DIFFERENT AGE
GROUPS. 62
4.10 MISSENSE ALTERATION IN THE
BRCAI GENE. 63
4.11 COMPARATIVE ANALYSIS OF THE FAMILIES WITH AND WITHOUT MUTATIONS. 67
5. DISCUSSION. 70
5.1 METHODS. 70
5.2 CHARACTERISTICS OF MUTATIONS AND ASSOCIATED PHENOTYPE. 72
5.3 DETECTION RATE OF
BRCAI MUTATIONS IN DIFFERENT KINDS OF FAMILIES. 74
5.4 LOD SCORE AND
BRCAI GENE MUTATION. 77
5.5 FOUNDER MUTATION. 77
5.6 SPLICE SITE MUTATIONS AND PENETRANCE OF OVARIAN CANCER. 79
BIBLIOGRAFISCHE INFORMATIONEN
HTTP://D-NB.INFO/954235762
2
5.7 MUTATIONS IN EXON 11 . 80
5.8 MISSENSE MUTATIONS AND ALTERATIONS IN THE NON-CODING SEQUENCES OF
THE
BRCA1
GENE. 81
5.9 GENETIC TEST OF THE
BRCA! GENE. 82
5.10 PERSPECTIVE. 83
6. METHODS. 85
6.1 DNA PREPARATION FROM WHOLE BLOOD. 85
6.2 POLYMERASE CHAIN REACTION (PCR). 85
6.3 SINGLE STRANDED CONFORMATION POLYMORPHISM (SSCP) ANALYSIS. 86
6.4 ALLELE SPECIFIC OLIGONUCLEOTIDE (ASO). 87
6.5 SEQUENCING. 88
7. MATERIALS. 93
7.1 RADIOACTIVE ISOTOPES. 93
7.2 ENZYMES. 93
7.3 KITS. 93
7.4 DNA PRIMERS. 94
7.5 DNA MARKERS. 97
7.6 SOLUTIONS. 97
7.7 EQUPMENT. 1CM)
8. REFERENCES. 102
9. CDNA SEQUENCE OF THE
BRCA1 GENE (HUMAN) AND MUTATION IDENTIFIED IN
THIS WORK. 110
10. VITAE. 119
11. ACKNOWLEDGMENTS
120 |
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| indexdate | 2024-10-09T16:04:03Z |
| institution | BVB |
| language | German |
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| spelling | Dong, Juan Verfasser aut Molekulare Analyse des BRCA1-Gens in 61 deutschen Familien mit Mamma- und Ovarialkarzinomen vorgelegt von Juan Dong 1998 120 Bl. Ill., graph. Darst. txt rdacontent n rdamedia nc rdacarrier Heidelberg, Univ., Diss., 1998 (Nicht für den Austausch) (DE-588)4113937-9 Hochschulschrift gnd-content DNB Datenaustausch application/pdf http://bvbr.bib-bvb.de:8991/F?func=service&doc_library=BVB01&local_base=BVB01&doc_number=008224435&sequence=000001&line_number=0001&func_code=DB_RECORDS&service_type=MEDIA Inhaltsverzeichnis |
| spellingShingle | Dong, Juan Molekulare Analyse des BRCA1-Gens in 61 deutschen Familien mit Mamma- und Ovarialkarzinomen |
| subject_GND | (DE-588)4113937-9 |
| title | Molekulare Analyse des BRCA1-Gens in 61 deutschen Familien mit Mamma- und Ovarialkarzinomen |
| title_auth | Molekulare Analyse des BRCA1-Gens in 61 deutschen Familien mit Mamma- und Ovarialkarzinomen |
| title_exact_search | Molekulare Analyse des BRCA1-Gens in 61 deutschen Familien mit Mamma- und Ovarialkarzinomen |
| title_full | Molekulare Analyse des BRCA1-Gens in 61 deutschen Familien mit Mamma- und Ovarialkarzinomen vorgelegt von Juan Dong |
| title_fullStr | Molekulare Analyse des BRCA1-Gens in 61 deutschen Familien mit Mamma- und Ovarialkarzinomen vorgelegt von Juan Dong |
| title_full_unstemmed | Molekulare Analyse des BRCA1-Gens in 61 deutschen Familien mit Mamma- und Ovarialkarzinomen vorgelegt von Juan Dong |
| title_short | Molekulare Analyse des BRCA1-Gens in 61 deutschen Familien mit Mamma- und Ovarialkarzinomen |
| title_sort | molekulare analyse des brca1 gens in 61 deutschen familien mit mamma und ovarialkarzinomen |
| topic_facet | Hochschulschrift |
| url | http://bvbr.bib-bvb.de:8991/F?func=service&doc_library=BVB01&local_base=BVB01&doc_number=008224435&sequence=000001&line_number=0001&func_code=DB_RECORDS&service_type=MEDIA |
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