5-氨基酮戊酸合酶位于3p21，因此不是X连锁铁粒幼细胞贫血的主要缺陷。
5-Aminolevulinate synthase is at 3p21 and thus not the primary defect in X-linked sideroblastic anemia.
作者信息
Sutherland G R, Baker E, Callen D F, Hyland V J, May B K, Bawden M J, Healy H M, Borthwick I A
机构信息
Cytogenetics Unit, Adelaide Children's Hospital, Australia.
出版信息
Am J Hum Genet. 1988 Sep;43(3):331-5.
Abstract
The gene for 5-aminolevulinate synthase (ALAS) has been mapped to 3pter-3q13.2 by Southern blot hybridization analysis of a mouse/human hybrid cell panel. In situ hybridization maps the gene to 3p21, distal to the common fragile site at 3p14.2 (FRA3B). The mapping of this gene to an autosome makes it improbable that it is the site of the primary defect in X-linked sideroblastic anemia.
摘要
通过对小鼠/人类杂交细胞系进行Southern印迹杂交分析，5-氨基酮戊酸合酶（ALAS）基因已被定位到3pter - 3q13.2。原位杂交将该基因定位到3p21，位于3p14.2（FRA3B）处的常见脆性位点远端。该基因定位于常染色体，这使得它不太可能是X连锁铁粒幼细胞贫血原发性缺陷的位点。
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