Kutler David I, Auerbach Arleen D
Department of Otolaryngology, New York University Medical Center, New York, USA.
Fam Cancer. 2004;3(3-4):241-8. doi: 10.1007/s10689-004-9565-8.
Fanconi anemia (FA) should be included among the genetic diseases that occur at high frequency in the Ashkenazi Jewish population. FA exhibits extensive genetic heterogeneity; there are currently 11 complementation groups reported, and 8 (i.e., FANCA, FANCC, FANCD1/BRCA2, FANCD2, FANCE, FANCF, FANCG, and FANCL) genes have been isolated. While patients may be from widely diverse ethnic groups, a single mutation in complementation group FA-C, c.711 + 4A > T (commonly known as IVS4 + 4A > T prior to current nomenclature rules) is unique to FA patients of Ashkenazi Jewish ancestry, and has a carrier frequency of greater than 1/100 in this population. In addition, a mutation (c.65G > A) in FANCA (FA-A is the most common complementation group in non-Jewish patients) and the mutation c.6174delT in FANCD1/BRCA2 are also unique to the Ashkenazi Jewish population. Therefore, the study of Fanconi anemia can lend insight into the types of cancer-predisposing genetic diseases specific to the Ashkenazi.
范可尼贫血（FA）应被列入在阿什肯纳兹犹太人群中高频发生的遗传疾病之中。FA表现出广泛的遗传异质性；目前已报道有11个互补组，并且已分离出8个基因（即FANCA、FANCC、FANCD1/BRCA2、FANCD2、FANCE、FANCF、FANCG和FANCL）。虽然患者可能来自广泛不同的种族群体，但互补组FA-C中的一个单一突变，即c.711 + 4A > T（在当前命名规则之前通常称为IVS4 + 4A > T）是阿什肯纳兹犹太血统的FA患者所特有的，并且在该人群中的携带频率大于1/100。此外，FANCA中的一个突变（c.65G > A）（FA-A是非犹太患者中最常见的互补组）以及FANCD1/BRCA2中的突变c.6174delT也是阿什肯纳兹犹太人群所特有的。因此，对范可尼贫血的研究可以深入了解阿什肯纳兹人特有的癌症易感性遗传疾病类型。
