Raskind W H, Wijsman E, Pagon R A, Cox T C, Bawden M J, May B K, Bird T D
Department of Medicine, University of Washington School of Medicine, Seattle.
Am J Hum Genet. 1991 Feb;48(2):335-41.
Molecular linkage analysis was performed on a kindred with X-linked sideroblastic anemia and ataxia. Two-point analysis with a DNA probe for phosphoglycerate kinase (PGK1), which maps to Xq13, suggested linkage to the disorder by a lod score of at least 2.60 at a recombination fraction of zero. The disease in this kindred appears to be clinically and genetically distinct from that in previously reported families with X-linked hereditary ataxia or spastic paraparesis. No mapping data are available for inherited X-linked sideroblastic anemia without neurologic abnormalities. However, structural alterations of band Xq13 may be involved in the development of idiopathic acquired sideroblastic anemia. No alterations in the restriction patterns of two X-linked genes involved in erythrocyte formation-i.e., a DNA-binding protein (GF-1) and 5-aminolevulinate synthase (ALAS)-were detected in DNA from affected males, arguing against a large deletion in either of these candidate genes.
对一个患有X连锁铁粒幼细胞贫血和共济失调的家族进行了分子连锁分析。用定位在Xq13的磷酸甘油酸激酶（PGK1）的DNA探针进行两点分析，结果表明在重组率为零时，与该疾病的连锁的优势对数得分至少为2.60。这个家族中的疾病在临床和遗传上似乎与之前报道的患有X连锁遗传性共济失调或痉挛性截瘫的家族不同。对于无神经异常的遗传性X连锁铁粒幼细胞贫血，尚无定位数据。然而，Xq13带的结构改变可能与特发性获得性铁粒幼细胞贫血的发生有关。在患病男性的DNA中未检测到参与红细胞形成的两个X连锁基因（即一种DNA结合蛋白（GF-1）和5-氨基酮戊酸合成酶（ALAS））的限制性模式改变，这排除了这些候选基因中任何一个发生大的缺失的可能性。
