[A novel mutation of the ALAS2 gene in a family with X-linked sideroblastic anemia].
OBJECTIVE
To confirm the mutation of ALAS2 gene is the cause of sideroblastic anemia in a family.


METHODS
Polymerase chain reaction (PCR) was used to amplify the microsatellite DXS 991, DXS 1199 in the chromosome Xp11.22 linked gene ALAS2 and haplotype analysis was performed in a kindred with 2 patients and 7 normal members. All cDNA encoded regions in the ALAS2 gene of the patients and their normal siblings were cloned, sequenced and compared.


RESULTS
Both brother patients had the same allele of ALAS2 and their normal siblings did not. The mutation in the patients' ALAS2 gene was exon 5 A523G, causing threonine to alanine; and exon 3 T372C, leucine to proline. The latter located in the splicing region, its significance is not clear.


CONCLUSIONS
The pathogenesis of this kindred of X-linked sideroblastic anemia (XLSA) involved a novel mutation in ALAS2 exon 5.
Zhu
P
P
The First Teaching Hospital of Beijing Medical University, Beijing 100034, China.
Bu
D
D
D000624:5-Aminolevulinate Synthetase / Q000235:genetics*; D000328:Adult; D000756:Anemia, Sideroblastic / Q000201:enzymology / Q000235:genetics* / Q000473:pathology; D001483:Base Sequence; D041321:Chromosomes, Human, X / Q000235:genetics*; D004247:DNA / Q000737:chemistry / Q000235:genetics; D004252:DNA Mutational Analysis; D005192:Family Health; D005260:Female; D008040:Genetic Linkage; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation
D004247:DNA; D000624:5-Aminolevulinate Synthetase