Savoia A, Centra M, Ianzano L, Pio de Cillis G, Buchwald M, Zelante L
I.R.C.C.S.-Ospedale C.S.S., Servizio di Genetica Medica, San Giovanni Rotondo, Foggia, Italy.
Mol Cell Probes. 1996 Jun;10(3):213-8. doi: 10.1006/mcpr.1996.0029.
Fanconi anaemia (FA) is a genetically heterogeneous disease with defects in at least five genes. The gene for complementation group C (FAC) has been cloned and mapped to chromosome 9q22.3 in the interval between D9S280 and D9S287. Linkage analysis is a rapid tool for the exclusion of FA families from complementation group C. The currently available markers are informative microsatellites flanking FAC and an intragenic restriction fragment length polymorphism (RFLP). In this paper, the identification of three CA polymorphic repeats localized in introns-1a, 2 and 3 and one rare variant in exon 2 are reported. The new microsatellites will enable more accurate analysis not only of FA but also in families affected by multiple self-healing squamous epitheliomata (ESS1) and nevoid basal cell carcinoma (NBCCS), since the genes of both syndromes have been mapped in the same interval as FAC.
范可尼贫血（FA）是一种具有至少五个基因缺陷的遗传异质性疾病。互补组C（FAC）的基因已被克隆并定位于9号染色体q22.3上，位于D9S280和D9S287之间的区间。连锁分析是一种快速工具，可用于将FA家系排除在互补组C之外。目前可用的标记是位于FAC两侧的信息性微卫星和一个基因内限制性片段长度多态性（RFLP）。本文报道了在第1a、2和3内含子中定位的三个CA多态性重复序列以及外显子2中的一个罕见变异的鉴定。新的微卫星不仅将使对FA的分析更准确，而且在受多发性自愈性鳞状上皮瘤（ESS1）和痣样基底细胞癌（NBCCS）影响的家系中也更准确，因为这两种综合征的基因都已定位在与FAC相同的区间。
