Till sidans topp

Sidansvarig: Webbredaktion
Sidan uppdaterades: 2012-09-11 15:12

Tipsa en vän
Utskriftsversion

Analyses of apoptotic reg… - Göteborgs universitet Till startsida
Webbkarta
Till innehåll Läs mer om hur kakor används på gu.se

Analyses of apoptotic regulators CASP9 and DFFA at 1P36.2, reveal rare allele variants in human neuroblastoma tumours.

Artikel i vetenskaplig tidskrift
Författare Frida Abel
Rose-Marie Sjöberg
Katarina Ejeskär
Cecilia Krona
Tommy Martinsson
Publicerad i British journal of cancer
Volym 86
Nummer/häfte 4
Sidor 596-604
ISSN 0007-0920
Publiceringsår 2002
Publicerad vid Institutionen för kvinnors och barns hälsa, Avdelningen för pediatrik
Sidor 596-604
Språk en
Länkar dx.doi.org/10.1038/sj.bjc.6600111
Ämnesord Alleles, Amino Acid Sequence, Apoptosis, genetics, Base Sequence, Case-Control Studies, Caspase 9, Caspases, genetics, metabolism, Chromosomes, Human, Pair 1, genetics, Cloning, Molecular, DNA Mutational Analysis, DNA Primers, chemistry, DNA, Neoplasm, analysis, Gene Frequency, Genes, Tumor Suppressor, Humans, Molecular Sequence Data, Mutation, Neoplasm Proteins, genetics, metabolism, Neuroblastoma, genetics, metabolism, Polymerase Chain Reaction, Proteins, genetics, metabolism
Ämneskategorier Medicin och Hälsovetenskap

Sammanfattning

The genes encoding Caspase-9 and DFF45 have both recently been mapped to chromosome region 1p36.2, that is a region alleged to involve one or several tumour suppressor genes in neuroblastoma tumours. This study presents an update contig of the 'Smallest Region of Overlap of deletions' in Scandinavian neuroblastoma tumours and suggests that DFF45 is localized in the region. The genomic organization of the human DFF45 gene, deduced by in-silico comparisons of DNA sequences, is described for the first time in this paper. In the present study 44 primary tumours were screened for mutation by analysis of the genomic sequences of the genes. In two out of the 44 tumours this detected in the DFFA gene one rare allele variant that caused a non-polar to a polar amino acid exchange in a preserved hydrophobic patch of DFF45. One case was hemizygous due to deletion of the more common allele of this polymorphism. Out of 194 normal control alleles only one was found to carry this variant allele, so in respect of it, no healthy control individual out of 97 was homozygous. Moreover, our RT-PCR expression studies showed that DFF45 is preferably expressed in low-stage neuroblastoma tumours and to a lesser degree in high-stage neuroblastomas. We conclude that although coding mutations of Caspase-9 and DFF45 are infrequent in neuroblastoma tumours, our discovery of a rare allele in two neuroblastoma cases should be taken to warrant further studies of the role of DFF45 in neuroblastoma genetics.

Sidansvarig: Webbredaktion|Sidan uppdaterades: 2012-09-11
Dela:

På Göteborgs universitet använder vi kakor (cookies) för att webbplatsen ska fungera på ett bra sätt för dig. Genom att surfa vidare godkänner du att vi använder kakor.  Vad är kakor?

Denna text är utskriven från följande webbsida:
http://www.gu.se/forskning/publikation/?publicationId=52312
Utskriftsdatum: 2020-02-25