ASSIGNMENT OF HUMAN ERYTHROID DELTA-AMINOLEVULINATE SYNTHASE (ALAS2) TO A DISTAL SUBREGION OF BAND XP11.21 BY PCR ANALYSIS OF SOMATIC-CELL HYBRIDS CONTAINING X - AUTOSOME TRANSLOCATIONS

被引：57
作者：
COTTER, PD
WILLARD, HF
GORSKI, JL
BISHOP, DF
机构：
[1] CUNY MT SINAI SCH MED,DIV MED & MOLEC GENET,5TH AVE & 100TH ST,NEW YORK,NY 10029
[2] STANFORD UNIV,MED CTR,SCH MED,DEPT GENET,STANFORD,CA 94305
[3] UNIV MICHIGAN,MED CTR,DEPT PEDIAT,ANN ARBOR,MI 48109
来源：
GENOMICS | 1992年 / 13卷 / 01期
关键词：
D O I：
10.1016/0888-7543(92)90223-F
中图分类号：
Q81 [生物工程学（生物技术）]; Q93 [微生物学];
学科分类号：
071005 ; 0836 ; 090102 ; 100705 ;
摘要：
The erythroid-specific (ALAS2) and housekeeping (ALAS1) genes encoding δ-aminolevulinate synthase have recently been mapped to chromosomes Xq21.1→q21 and 3p21, respectively. The erythroid-specific gene is a candidate for mutations resulting in X-linked sideroblastic anemia. Analysis of DNA from hybrid clones containing translocations in the region Xp11.21→Xq21.3 permitted the finer localization of the ALAS2 gene with respect to other loci and breakpoints within this region. These studies localized the ALAS2 gene to the distal subregion of Xp11.21 in Interval 5 indicating the following gene order: Xpter-OATL2-[L62-3A, Xp11.21; A62-1A-4b, Xp11.21]-(ALAS2, DXS323)-[B13-3, Xp11.21; C9-5, Xp11.21]-(DXS14, DXS429)-DXS422-(DXZ1, Xcen). Thus, the reported linkage of acquired sideroblastic anemia and sideroblastic anemia with ataxia to Xq13 presumably results from genes other than ALAS2. © 1992.
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页码：211 / 212
页数：2
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