Frequency of 657del(5) mutation of the NBS1 gene in the Czech population by polymerase chain reaction with sequence specific primers.
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).
Drábek
Jirí
J
Department of Immunology, Faculty of Medicine, Palacký University and Faculty Hospital in Olomouc, Olomouc, Czech Republic. drabekj@fnol.cz
Hajdúch
Marián
M
Gojová
Libuse
L
Weigl
Evzen
E
Mihál
Vladimír
V
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
D018797:Cell Cycle Proteins; D017931:DNA Primers; C112156:NBN protein, human; D009687:Nuclear Proteins