Whitney M A, Jakobs P, Kaback M, Moses R E, Grompe M
Department of Molecular and Medical Genetics, Oregon Health Sciences University, Portland 97201.
Hum Mutat. 1994;3(4):339-41. doi: 10.1002/humu.1380030402.
Fanconi anemia (FA) is an autosomal recessive disease for which at least four complementation groups exist. Recently the gene that corrects the defect in Fanconi anemia complementation group C cells (FACC) has been cloned. We have previously identified a common mutation in the FACC gene, which accounts for a majority of FA cases in Ashkenazi Jewish individuals. We here describe the use of allele-specific oligonucleotide (ASO) hybridization to determine the frequency of this mutation among additional Jewish FA patients and to determine the carrier frequency in the Jewish population. The common IVS4 + 4A-->T allele was found on 19/23 (83%) Jewish FA chromosomes, indicating that it is indeed responsible for most cases of FA among Ashkenazi Jews. The carrier frequency was 2/314 for Jewish individuals and the mutant allele was not detected in 130 non-Jewish controls.
范可尼贫血（FA）是一种常染色体隐性疾病，至少存在四个互补组。最近，纠正范可尼贫血互补组C细胞（FACC）缺陷的基因已被克隆。我们之前已在FACC基因中鉴定出一种常见突变，该突变占德系犹太个体中大多数FA病例。我们在此描述使用等位基因特异性寡核苷酸（ASO）杂交来确定该突变在其他犹太FA患者中的频率，并确定犹太人群中的携带者频率。在23条犹太FA染色体中的19条（83%）上发现了常见的IVS4 + 4A→T等位基因，这表明它确实是德系犹太人中大多数FA病例的病因。犹太个体的携带者频率为2/314，在130名非犹太对照中未检测到突变等位基因。
