title: Frequency of 657del(5) mutation of the NBS1 gene in the Czech population by polymerase chain reaction with sequence specific primers.
abstract: 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).
authors.affiliation: Department of Immunology, Faculty of Medicine, Palacký University and Faculty Hospital in Olomouc, Olomouc, Czech Republic. drabekj@fnol.cz
authors.forename: Jirí
authors.initials: J
authors.lastname: Drábek
authors.forename: Marián
authors.initials: M
authors.lastname: Hajdúch
authors.forename: Libuse
authors.initials: L
authors.lastname: Gojová
authors.forename: Evzen
authors.initials: E
authors.lastname: Weigl
authors.forename: Vladimír
authors.initials: V
authors.lastname: Mihál
mesh_terms: D000293:Adolescent; D000328:Adult; D001483:Base Sequence; D018797:Cell Cycle Proteins / Q000235:genetics*; D002872:Chromosome Deletion; D003604:Czechoslovakia; D004249:DNA Damage / Q000235:genetics; D004252:DNA Mutational Analysis; D017931:DNA Primers / Q000235:genetics*; D005260:Female; D005787:Gene Frequency / Q000235:genetics*; D005858:Germany; D006579:Heterozygote; D006801:Humans; D008297:Male; D008875:Middle Aged; D009687:Nuclear Proteins / Q000235:genetics*; D016133:Polymerase Chain Reaction / Q000379:methods*; D011836:Radiation Tolerance / Q000235:genetics; D012680:Sensitivity and Specificity; D013577:Syndrome
chemical_list: D018797:Cell Cycle Proteins; D017931:DNA Primers; C112156:NBN protein, human; D009687:Nuclear Proteins