Whitney M A, Saito H, Jakobs P M, Gibson R A, Moses R E, Grompe M
Department of Molecular and Medical Genetics, Oregon Health Sciences University, Portland 97201.
Nat Genet. 1993 Jun;4(2):202-5. doi: 10.1038/ng0693-202.
Fanconi anaemia is an autosomal recessive disease for which four known complementation groups exist. Recently, the gene defective in complementation group C (FACC) has been cloned. In order to determine the fraction of Fanconi anaemia caused by FACC mutations, we used reverse transcription PCR and chemical mismatch cleavage (CMC) to examine the FACC cDNA in 17 FA cell lines. 4/17 patients (23.5%) had mutations in this gene. Two Ashkenazi-Jewish individuals were homozygous for an identical splice mutation. Three additional Jewish patients bearing this allele were found upon screening 21 other families. We conclude that a common mutation in FACC accounts for the majority of Fanconi anaemia in Ashkenazi-Jewish families.
范可尼贫血是一种常染色体隐性疾病，已知存在四个互补组。最近，互补组C（FACC）中的缺陷基因已被克隆。为了确定由FACC突变引起的范可尼贫血的比例，我们使用逆转录聚合酶链反应和化学错配切割（CMC）来检测17个范可尼贫血细胞系中的FACC互补DNA。17名患者中有4名（23.5%）该基因发生了突变。两名阿什肯纳兹犹太个体为相同剪接突变的纯合子。在对另外其他21个家庭进行筛查时，又发现了三名携带此等位基因的犹太患者。我们得出结论，FACC中的一个常见突变是阿什肯纳兹犹太家庭中大多数范可尼贫血的病因。
