Gasparini P, Miraglia del Giudice E, Delaunay J, Totaro A, Granatiero M, Melchionda S, Zelante L, Iolascon A
Servizio di Genetica Medica, IRCCS-"CSS" San Giovanni R. (FG), Italy.
Am J Hum Genet. 1997 Nov;61(5):1112-6. doi: 10.1086/301609.
Congenital dyserythropoietic anemias (CDA) are genetic disorders characterized by anemia and ineffective erythropoiesis. Three main types of CDA have been distinguished: CDA I and CDA III, whose loci have been already mapped, and CDA II (MIM 224100), the most frequent among CDAs, which is transmitted as an autosomal recessive trait and is known also as "HEMPAS" (hereditary erythroblast multinuclearity with positive acidified serum). We have recruited a panel of well-characterized CDA II families and have used them to search for the CDA II gene by linkage analysis. After the exclusion of three candidate genes, we ob-tained conclusive evidence for linkage of CDA II to microsatellite markers on the long arm of chromosome 20 (20q11.2). A maximum two-point LOD score of 5.4 at a recombination fraction of .00 was obtained with marker D20S863. Strong evidence of allelic association with the disease was detected with the same marker. Some recombinational events established a maximum candidate interval of approximately 5 cM.
先天性红细胞生成异常性贫血（CDA）是一类以贫血和无效红细胞生成 为特征的遗传性疾病。已区分出三种主要类型的CDA：CDA I和CDA III，其基因座已被定位，以及CDA II（MIM 224100），它是CDA中最常见的类型，以常染色体隐性性状遗传，也被称为“HEMPAS”（遗传性成红细胞多核症伴酸化血清阳性）。我们招募了一组特征明确的CDA II家系，并通过连锁分析利用它们来寻找CDA II基因。在排除三个候选基因后，我们获得了CDA II与20号染色体长臂（20q11.2）上的微卫星标记连锁的决定性证据。标记D20S863在重组率为0.00时获得的最大两点LOD得分为5.4。用同一标记检测到与该疾病等位基因关联的有力证据。一些重组事件确定了大约5厘摩的最大候选区间。
