onr:"swepub:oai:DiVA.org:uu-653"
Search: onr:"swepub:oai:DiVA.org:uu-653" > Genomic rearrangeme...
- 1 of 1
- Previous record
- Next record
- To hitlist
- Lagerstedt, KristinaUppsala universitet,Institutionen för genetik och patologi (author)
Genomic rearrangements at the cause of three genetic disorders in man
- BookEnglish2001
Publisher, publication year, extent ...
- Uppsala :Acta Universitatis Upsaliensis,2001
- 48 s.
- printrdacarrier
Numbers
- LIBRIS-ID:oai:DiVA.org:uu-653
- ISBN:915545013X
- https://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-653URI
Supplementary language notes
- Language:English
- Summary in:English
Part of subdatabase
- SwePubSwePub
Classification
Series
- Comprehensive Summaries of Uppsala Dissertations from the Faculty of Medicine,0282-7476 ;1032
Notes
- Genomic rearrangements are a common cause of genetic disorders in man. This thesis describes the analysis of genomic rearrangements observed in patients with the Hunter syndrome (MPS II), incontinentia pigmenti (IP) and the Blepharophimosis, ptosis and epicanthus inversus syndrome (BPES). MPS II is an X-linked recessive lysosomal storage disorder. In MPS II, structural rearrangements in the IDS locus are observed in 20 % of affected individuals. In order to analyze and characterize these aberrations, rearrangement junctions were isolated and analyzed from eight unrelated individuals suffering from inversions or deletions in the IDS region. The results showed that rearrangements had occurred either by means of nonhomologous end joining (NHEJ) or homologous recombination (HR). Some of the deletions in the IDS gene were the result of NHEJ while inversions were the result of HR between the IDS gene and a locus of high sequence identity, IDS-2, located telomeric of the IDS gene. We also propose that the HR was initiated by a double-strand break in the IDS locus. A novel rearrangement in the IDS locus was also identified in a family with XY, XX and XXY males. IP is a rare multisystem ectodermal disorder with X-linked dominant inheritance. A large set of Swedish patients with IP was screened for mutations in the NEMO gene. In 70 % of the probands, including both familial and sporadic cases, a 12 kb deletion spanning exons 4-10 of the NEMO gene was observed. The deletion is caused by a homologous recombination event between two identical repeats located in intron 3 of the NEMO gene and 3´ of the gene. The clinical manifestations were quite variable, even within IP patients carrying the same mutation. BPES is a disorder affecting cranofacial development. A transcription factor, FOXL2, has been found to be defective in patients with the disorder. A boy with BPES and associated anomalies, suggestive of a contiguous gene deletion syndrome, was investigated using polymorphic markers and fluorescent in situ hybridization (FISH). A deletion of approximately 40 kb was identified within a novel gene, C3orf5. The deletion is located approximately 250 kb upstream of FOXL2. It was suggested that the extragenic deletion in C3orf5 may exert a position effect of FOXL2, and possibly also of other genes in the BPES region.
Subject headings and genre
- MEDICIN OCH HÄLSOVETENSKAP Medicinska och farmaceutiska grundvetenskaper Medicinsk genetik hsv//swe
- MEDICAL AND HEALTH SCIENCES Basic Medicine Medical Genetics hsv//eng
- Genetics
- Mucopolysaccharidosis type II (MPS II)
- The Hunter syndrome
- Incontinentia pigmenti (IP)
- Blepharophimosis
- ptosis
- epicanthus inversus syndrome (BPES)
- mutational analysis
- nonhomologous end joining (NHEJ)
- homologous recombination (HR)
- Genetik
- Clinical genetics
- Klinisk genetik
- Medical Genetics
- medicinsk genetik
Added entries (persons, corporate bodies, meetings, titles ...)
- Uppsala universitetInstitutionen för genetik och patologi (creator_code:org_t)
Internet link
Find in a library
- Genomic rearrangements at the cause of three genetic disorders in man (Search the publication in LIBRIS)
To the university's database
- 1 of 1
- Previous record
- Next record
- To hitlist
Find more in SwePub
- By the author/editor
- Lagerstedt, Kris ...
- About the subject
-
- MEDICAL AND HEALTH SCIENCES
- MEDICAL AND HEAL ...
- and Basic Medicine
- and Medical Genetics
- Parts in the series
- Comprehensive Su ...
- By the university
- Uppsala University
Search outside SwePub
- Extend your search to:
- Google Book Search
- Google Scholar
Kungliga biblioteket hanterar dina personuppgifter i enlighet med EU:s dataskyddsförordning (2018), GDPR. Läs mer om hur det funkar här.
Så här hanterar KB dina uppgifter vid användning av denna tjänst.
- Copyright © LIBRIS - National Library Systems
- LIBRIS.kb.se
