Detection of p53 germline mutation in Li-Fraumeni syndrome families

Ahda, Yuni and N, Dan and Suhana (2002) Detection of p53 germline mutation in Li-Fraumeni syndrome families.

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Li-Fraumeni syndrome is an autosomal dominant familial cancer syndrome that in its classic form is defined by the existence of both a proband with a sarcoma and two other first-degree relatives with a cancer by age 45 years. Approximately 70% of families with LFS is caused by p53 gene mutation. P53 mutant could not do its normal function to arrest at G1 phase of cell cycles or to induce the cell death program via apoptosis after DNA damage and thereby may attempt replication of damaged genome. This activity suggests that cells with mutant p53 will accumulate further mutations more rapidly and display increases genomic instability. This condition is consistent with the increased neoplastic potential of patients with Li-Fraumeni syndrome who inherit a germ line defect in one p53 allele.Sequencing technique is a rapid detection procedure has been developed to detect the p53 germ line mutation in Li-Fraumeni syndrome family, but because it is so labor intensive, large-scale screening tests are impractical. Some alternative techniques have been developed like functional screening test of p53 mutation based on the loss of wild type transcription activation and single strand conformation polymorphism mutation analysis based on the differences of single strand DNA migration pattern on polyacrylamide gel.

Item Type: Article
Subjects: Collections > Koleksi Perpustakaan Di Indonesia > Perpustakaan Di Indonesia > JKPTYARSI > Research Report > Kedokteran > Tahun 2002
Divisions: Universitas Komputer Indonesia > Perpustakaan UNIKOM
Depositing User: Admin Repository
Date Deposited: 16 Nov 2016 07:38
Last Modified: 16 Nov 2016 07:38

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