A case with α-thalassemia caused by novel start codon variant in conjunct with right deletion variant of α2-globin gene / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
;
(6): 12-14, 2021.
Article
Dans Chinois
| WPRIM
| ID: wpr-879512
ABSTRACT
OBJECTIVE@#The explore the genetic basis for a patient with microcytic hypochromic anemia and iron deficiency anemia.@*METHODS@#Common deletions and variants of the globin genes were detected by Gap-PCR and next generation sequencing (NGS). Suspected mutations were verified by Sanger sequencing.@*RESULTS@#Gap-PCR and NGS showed that the proband has carried a αα/-α @*CONCLUSION@#Patients with α HBA2 c.2T>A(p.Met1Lys) α/-α
Texte intégral:
Disponible
Indice:
WPRIM (Pacifique occidental)
Sujet Principal:
Diagnostic prénatal
/
Variation génétique
/
Alpha-Thalassémie
/
Codon d'initiation
/
Globines alpha
/
Conseil génétique
/
Génotype
/
Anémie hypochrome
/
Mutation
Type d'étude:
Etude diagnostique
Limites du sujet:
Femelle
/
Humains
/
Mâle
/
Grossesse
langue:
Chinois
Texte intégral:
Chinese Journal of Medical Genetics
Année:
2021
Type:
Article
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