Beta-thalassemia major caused by compound heterozygosity for +40 to +43(-AAAC), IVS-2-654 (C to T) and codon 41/42 (-TCTT) / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
; (6): 418-420, 2008.
Article
in Zh
| WPRIM
| ID: wpr-308050
Responsible library:
WPRO
ABSTRACT
<p><b>OBJECTIVE</b>To report the analysis of a rare beta-thalassemia ternary heterozygote [+40 to +43(-AAAC)*CD41/42(-TTCT)*IVS-2-654] causing beta-thalassemia major in a Chinese.</p><p><b>METHODS</b>Using PCR-ASO probe hybridization analysis to scan 17 known types of beta-thalassemia mutations, and gene cloning and DNA sequencing to identify the underlying causative mutation.</p><p><b>RESULTS</b>Reverse dot blot (RDB) analysis showed that the patient's beta-globin gene had three mutations +40 to +43(-AAAC), CD41/42(-TCTT) and IVS-2-654(C to T). Beta-globin gene cloning and sequencing proved that, the two deletions of +40 to +43(-AAAC) and CD41/42(-TCTT) co-existed on the same chromosome, and the other homologous chromosome had an IVS-2-654 (C to T) mutation. So the patient is a compound heterozygote of [+40 to +43(-AAAC)*CD41/42 (-TCTT)]/IVS-2-654 (C to T) leading to beta-thalassemia major.</p><p><b>CONCLUSION</b>The triple mutation of [+40 to +43(-AAAC)*CD41/42(-TCTT)/N] is a new genotype of beta-thalassemia in Chinese.</p>
Full text:
1
Index:
WPRIM
Main subject:
Haplotypes
/
Codon
/
DNA Mutational Analysis
/
Beta-Thalassemia
/
Genetics
/
Heterozygote
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Genetic Carrier Screening
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Mutation
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Nucleic Acid Hybridization
Limits:
Female
/
Humans
Language:
Zh
Journal:
Chinese Journal of Medical Genetics
Year:
2008
Type:
Article