[A method for detection of germinal mutations in the p53 tumor suppressor gene].
BACKGROUND
The tumour suppressor gene p53 is exhibits somatic mutations in a high proportion of human tumours. In addition, there are cancer families suffering from the Li-Fraumeni syndrome, the members of which carry germ line mutations in this gene. The carriers of the p53 germ line mutations have a high risk of developing tumours. The genetic diagnosis of carriership of the mutation in the tumour family members is important for preventive measures and for eventual tumour therapy modification.


RESULTS
We have developed a method for the detection of germ line mutations in the p53 gene based on non-radioactive SSCP and direct sequencing of PCR products. We have proved the efficiency of the method by finding known mutations in eight tumour cell lines. In our collection of tumour families we have detected polymorphisms in exons 4 and 6 of the p53 gene. In one family which conformed to the criteria of the Li-Fraumem syndrome we have found a novel germ line mutation in exon 5.


CONCLUSIONS
The method developed by us is very simple and sensitive. The germ line mutations in the p53 gene are very rare.
Sedlácek
Z
Z
Ustav biologie a lékarské genetiky 2. LF UK, Praha.
Kríz
V
V
Seemanová
E
E
Vlcek
C
C
Maríková
T
T
Mares
J
J
Goetz
P
P
D005260:Female; D016158:Genes, p53 / Q000235:genetics*; D006580:Genetic Carrier Screening; D005819:Genetic Markers; D005821:Genetic Techniques; D018095:Germ-Line Mutation; D006801:Humans; D016864:Li-Fraumeni Syndrome / Q000175:diagnosis* / Q000235:genetics; D010375:Pedigree; D016133:Polymerase Chain Reaction; D018807:Polymorphism, Single-Stranded Conformational; D011296:Prenatal Diagnosis
D005819:Genetic Markers