Frequency of 657del(5) mutation of the NBS1 gene in the Czech population by polymerase chain reaction with sequence specific primers
Language English Country United States Media print
Document type Journal Article, Research Support, Non-U.S. Gov't
PubMed
12505263
DOI
10.1016/s0165-4608(02)00594-0
PII: S0165460802005940
Knihovny.cz E-resources
- MeSH
- Chromosome Deletion * MeSH
- DNA Primers genetics MeSH
- Adult MeSH
- Gene Frequency genetics MeSH
- Heterozygote MeSH
- Nuclear Proteins genetics MeSH
- Middle Aged MeSH
- Humans MeSH
- Adolescent MeSH
- DNA Mutational Analysis MeSH
- Polymerase Chain Reaction methods MeSH
- DNA Damage genetics MeSH
- Cell Cycle Proteins genetics MeSH
- Base Sequence MeSH
- Sensitivity and Specificity MeSH
- Syndrome MeSH
- Radiation Tolerance genetics MeSH
- Check Tag
- Adult MeSH
- Middle Aged MeSH
- Humans MeSH
- Adolescent MeSH
- Male MeSH
- Female MeSH
- Publication type
- Journal Article MeSH
- Research Support, Non-U.S. Gov't MeSH
- Geographicals
- Czechoslovakia MeSH
- Germany MeSH
- Names of Substances
- DNA Primers MeSH
- Nuclear Proteins MeSH
- NBN protein, human MeSH Browser
- Cell Cycle Proteins MeSH
Nijmegen breakage syndrome is an autosomal recessive chromosomal instability syndrome characterized by microcephaly, immunodeficiency, radiosensitivity, and predisposition to lymphoid malignancy. A truncating deletion [657del(5)] in exon 6 of the nibrin NBS1 gene is the most frequent cause of the syndrome. Slavic populations carry this mutation in a high frequency. Here, we present polymerase chain reaction with sequence specific primers as a method for the detection of Slavic NBS1 mutation and confirm the high carrier frequency in the Czech population (combined frequency from both studies: 1/106, 95% CI = 1/331 to 1/46).
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