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rdf:type |
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lifeskim:mentions |
umls-concept:C0017337,
umls-concept:C0026882,
umls-concept:C0032520,
umls-concept:C0032659,
umls-concept:C0205369,
umls-concept:C0206415,
umls-concept:C0376249,
umls-concept:C0674679,
umls-concept:C1334862,
umls-concept:C1427803,
umls-concept:C1519249,
umls-concept:C1705041
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pubmed:issue |
2
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pubmed:dateCreated |
2002-12-30
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pubmed:abstractText |
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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pubmed:language |
eng
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pubmed:journal |
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pubmed:citationSubset |
IM
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pubmed:chemical |
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pubmed:status |
MEDLINE
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pubmed:month |
Oct
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pubmed:issn |
0165-4608
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pubmed:author |
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pubmed:issnType |
Print
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pubmed:day |
15
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pubmed:volume |
138
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
157-9
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pubmed:dateRevised |
2007-5-10
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pubmed:meshHeading |
pubmed-meshheading:12505263-Adolescent,
pubmed-meshheading:12505263-Adult,
pubmed-meshheading:12505263-Base Sequence,
pubmed-meshheading:12505263-Cell Cycle Proteins,
pubmed-meshheading:12505263-Chromosome Deletion,
pubmed-meshheading:12505263-Czechoslovakia,
pubmed-meshheading:12505263-DNA Damage,
pubmed-meshheading:12505263-DNA Mutational Analysis,
pubmed-meshheading:12505263-DNA Primers,
pubmed-meshheading:12505263-Female,
pubmed-meshheading:12505263-Gene Frequency,
pubmed-meshheading:12505263-Germany,
pubmed-meshheading:12505263-Heterozygote,
pubmed-meshheading:12505263-Humans,
pubmed-meshheading:12505263-Male,
pubmed-meshheading:12505263-Middle Aged,
pubmed-meshheading:12505263-Nuclear Proteins,
pubmed-meshheading:12505263-Polymerase Chain Reaction,
pubmed-meshheading:12505263-Radiation Tolerance,
pubmed-meshheading:12505263-Sensitivity and Specificity,
pubmed-meshheading:12505263-Syndrome
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pubmed:year |
2002
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pubmed:articleTitle |
Frequency of 657del(5) mutation of the NBS1 gene in the Czech population by polymerase chain reaction with sequence specific primers.
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pubmed:affiliation |
Department of Immunology, Faculty of Medicine, Palacký University and Faculty Hospital in Olomouc, Olomouc, Czech Republic. drabekj@fnol.cz
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pubmed:publicationType |
Journal Article,
Research Support, Non-U.S. Gov't
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