DELETION MAPPING - FURTHER EVIDENCE FOR THE LOCATION OF ACID-PHOSPHATASE (ACP1) WITHIN 2P23

被引:21
作者
EMANUEL, BS
ZACKAI, EH
VANDYKE, DC
SWALLOW, DM
ALLEN, FH
MELLMAN, WJ
机构
[1] UNIV LONDON UNIV COLL,GALTON LAB,MRC,HUMAN BIOCHEM GENET UNIT,LONDON WC1E 6BT,ENGLAND
[2] UNIV PENN,DEPT HUMAN GENET,PHILADELPHIA,PA 19104
[3] UNIV PENN,DEPT PEDIAT,PHILADELPHIA,PA 19104
[4] UNIV PENN,SCH MED,CTR HUMAN GENET,PHILADELPHIA,PA 19104
来源
AMERICAN JOURNAL OF MEDICAL GENETICS | 1979年 / 4卷 / 02期
关键词
D O I
10.1002/ajmg.1320040209
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
The human red cell acid phosphatase (ACP1) locus was assigned to region 2p23 →2pter by Ferguson-Smith et al, more specifically to 2p23 by Hamerton et al. We describe two unrelated patients with deletion of chromosome 2, with similar breakpoints in the distal portion of band p23 (del(2) (p23)). ACP1 typing in both patients revealed heterozygous BA phenotypes. Thus, we assign the locus for ACP1 to the distal portion of 2p23.
引用
收藏
页码:167 / 172
页数:6
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