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Variant analysis of SEC23B gene in 4 families with congenital dyserythropoietic anemia / 中华医学遗传学杂志
Article de Zh | WPRIM | ID: wpr-888381
Bibliothèque responsable: WPRO
ABSTRACT
OBJECTIVE@#To identify the pathogenic variants of 4 patients with hemolytic anemia of unknown cause.@*METHODS@#Peripheral blood samples of the patients and their family members were collected to extract DNA. The coding region and splice region in all exons of gene of erythrocyte related diseases were analyzed by using target sequence capture and high-throughput sequencing technology. Suspected pathogenic variants were verified by PCR combined Sanger sequencing technology.@*RESULTS@#Each of the probands was detected two compound heterozygous variants, and CDA II was diagnosed. Six variants were detected in the 4 probands, four variants were reported and the other two were first reported.@*CONCLUSION@#By high-throughput sequencing, gene variant of CDA II be analyzed fast and accurately. It is an effective supplement to convenional diagnostic methods. Furthermore, the novel variant sites have enriched the variant database of the SEC23B gene.
Sujet(s)
Texte intégral: 1 Indice: WPRIM Sujet Principal: Exons / Protéines du transport vésiculaire / Séquençage nucléotidique à haut débit / Anémie dysérythropoïétique congénitale / Mutation Limites du sujet: Humans langue: Zh Texte intégral: Zhonghua Yi Xue Yi Chuan Xue Za Zhi Année: 2021 Type: Article
Texte intégral: 1 Indice: WPRIM Sujet Principal: Exons / Protéines du transport vésiculaire / Séquençage nucléotidique à haut débit / Anémie dysérythropoïétique congénitale / Mutation Limites du sujet: Humans langue: Zh Texte intégral: Zhonghua Yi Xue Yi Chuan Xue Za Zhi Année: 2021 Type: Article