5-Aminolevulinate synthase is at 3p21 and thus not the primary defect in X-linked sideroblastic anemia.
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.
Sutherland
G R
GR
Cytogenetics Unit, Adelaide Children's Hospital, Australia.
Baker
E
E
Callen
D F
DF
Hyland
V J
VJ
May
B K
BK
Bawden
M J
MJ
Healy
H M
HM
Borthwick
I A
IA
D000624:5-Aminolevulinate Synthetase / Q000235:genetics*; D000756:Anemia, Sideroblastic / Q000235:genetics*; D002874:Chromosome Mapping; D002893:Chromosomes, Human, Pair 3; D003001:Cloning, Molecular; D006801:Humans; D009693:Nucleic Acid Hybridization
D000624:5-Aminolevulinate Synthetase