Molecular analysis of beta-thalassemia intermedia in Guangdong Province / 中国当代儿科杂志
Chinese Journal of Contemporary Pediatrics
;
(12): 358-360, 2007.
Article
in Chinese
| WPRIM
| ID: wpr-312698
ABSTRACT
<p><b>OBJECTIVE</b>To determine the molecular defects of beta-thalassemia intermedia in Guangdong Province and to provide basis for gene diagnosis and gene therapy of this disorder.</p><p><b>METHODS</b>DNA analysis of the alpha, beta and gamma globin genes was performed in 18 children with beta-thalassemia intermedia from Guangdong Province using polymerase chain reaction (PCR), microarray technique, Southern blot and direct sequencing.</p><p><b>RESULTS</b>Of the 18 patients,one was identified as the homozygote of TATA box-28 (A-->G) change, one as the homozygote of betaE26 (G-->A) mutation, ten as compound heterozygotes of TATA box- 28 (A-->G) mutation with other beta-globin mutations, two as compound heterozygotes of betaE26 (G-->A ) mutation with other beta globin mutations, and four as double heterozygotes for beta globin and alpha globin mutations including -SEA and -alpha(4.2).</p><p><b>CONCLUSIONS</b>The molecular defects of beta- thalassemia intermedia in Guangdong Province were highly heterogeneous and its spectrum was different from the reports from other provinces of China.</p>
Full text:
Available
Index:
WPRIM (Western Pacific)
Main subject:
Globins
/
TATA Box
/
Beta-Thalassemia
/
Oligonucleotide Array Sequence Analysis
/
Genetics
/
Mutation
Limits:
Child
/
Child, preschool
/
Female
/
Humans
/
Infant
/
Male
Language:
Chinese
Journal:
Chinese Journal of Contemporary Pediatrics
Year:
2007
Type:
Article
Similar
MEDLINE
...
LILACS
LIS