Molecular and prenatal diagnosis for a Chinese pregnant woman with a novel mutation of β thalassemia / 中华血液学杂志
Chinese Journal of Hematology
;
(12): 245-248, 2011.
Article
Dans Chinois
| WPRIM
| ID: wpr-251983
ABSTRACT
<p><b>OBJECTIVE</b>To conduct molecular and prenatal diagnosis for a couple with β thalassemia.</p><p><b>METHODS</b>Blood routine examination and hemoglobin analysis were used for screening of thalassemia. Seventeen common Chinese mutations of β thalassemia were detected for the carriers with β thalassemia using PCR/RDB. The unknown mutation of β thalassemia was identified by DNA sequencing and DHPLC analysis.</p><p><b>RESULTS</b>The husband was heterozygote of CD41/42 (-TCTT). The wife carried a mutation IVS-I-110 (G→A) of β thalassemia having not been reported in Chinese so far. The fetus was a double mutated heterozygote of IVS-I-110 (G→A) and CD41/42 (-TCTT). The pregnancy was terminated.</p><p><b>CONCLUSION</b>Mutation IVS-I-110 (G→A) of β thalassemia in Chinese is of importance to the genetic counseling and prenatal diagnosis of thalassemia.</p>
Texte intégral:
Disponible
Indice:
WPRIM (Pacifique occidental)
Sujet Principal:
Complications hématologiques de la grossesse
/
Diagnostic prénatal
/
Analyse de mutations d'ADN
/
Séquence nucléotidique
/
Bêta-Thalassémie
/
Diagnostic
/
Génétique
/
Mutation
Type d'étude:
Etude diagnostique
Limites du sujet:
Femelle
/
Humains
/
Mâle
/
Grossesse
langue:
Chinois
Texte intégral:
Chinese Journal of Hematology
Année:
2011
Type:
Article
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