Analysis of a mistake occurring during prenatal diagnosis of two couples respectively carrying CD41-42 (-TCTT) and CD43(G>T) mutations of the beta hemoglobin gene / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
;
(6): 684-687, 2017.
Article
Dans Chinois
| WPRIM
| ID: wpr-344196
ABSTRACT
<p><b>OBJECTIVE</b>To provide prenatal diagnosis for two couples who respectively carried heterozygous CD41-42 (-TCTT) and CD43 (G>T) mutations of the beta hemoglobin gene.</p><p><b>METHODS</b>The mutations were simultaneously detected with reverse dot blot (two diagnostic kits), multi-color melting curve analysis and sequencing analysis.</p><p><b>RESULTS</b>The fetus of family 1 was shown to be heterozygous for CD43 (G>T) by the three methods, while the fetus of family 2 was shown to be double heterozygous for CD41-42 (-TCTT) and CD43 (G>T) by multi-color melting curve analysis and sequencing analysis. The two diagnostic kits yielded different results by reverse dot blot, one as double heterozygous for CD41-42 (-TCTT) and CD43 (G>T), and another as homozygous for CD41-42 (-TCTT).</p><p><b>CONCLUSION</b>For prenatal diagnosis of couples carrying mutations of beta hemoglobin gene such as CD41-42 (-TCTT) and CD43 (G>T), other methods such as Sanger sequencing should be used in order to avoid misdiagnosis.</p>
Texte intégral:
Disponible
Indice:
WPRIM (Pacifique occidental)
Sujet Principal:
Diagnostic prénatal
/
Trousses de réactifs pour diagnostic
/
Bêta-Thalassémie
/
Diagnostic
/
Erreurs de diagnostic
/
Globines bêta
/
Génétique
/
Hétérozygote
/
Mutation
Type d'étude:
Essai clinique contrôlé
/
Etude diagnostique
Limites du sujet:
Femelle
/
Humains
/
Mâle
/
Grossesse
langue:
Chinois
Texte intégral:
Chinese Journal of Medical Genetics
Année:
2017
Type:
Article
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