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Hb A2-Guangxi [δ79 (EF3) Asp→Asn, HBD: C.238G > A] and polyA + 70 (HBD: C.*200G > A): Two Novel δ-Globin Gene Mutations Identified in a Chinese Family.
Long, Xi-Gui; He, Xi; Zheng, Li-Hong; Liang, Liang; Qin, Ting; Li, You-Qiong.
Afiliación
  • Long XG; Center for Medical Genetics and Prenatal Diagnosis, People's Hospital of Guangxi Zhuang Autonomous Region, Nanning, Guangxi, People's Republic of China.
  • He X; Center for Medical Genetics and Prenatal Diagnosis, People's Hospital of Guangxi Zhuang Autonomous Region, Nanning, Guangxi, People's Republic of China.
  • Zheng LH; Center for Medical Genetics and Prenatal Diagnosis, People's Hospital of Guangxi Zhuang Autonomous Region, Nanning, Guangxi, People's Republic of China.
  • Liang L; Center for Medical Genetics and Prenatal Diagnosis, People's Hospital of Guangxi Zhuang Autonomous Region, Nanning, Guangxi, People's Republic of China.
  • Qin T; Center for Medical Genetics and Prenatal Diagnosis, People's Hospital of Guangxi Zhuang Autonomous Region, Nanning, Guangxi, People's Republic of China.
  • Li YQ; Center for Medical Genetics and Prenatal Diagnosis, People's Hospital of Guangxi Zhuang Autonomous Region, Nanning, Guangxi, People's Republic of China.
Hemoglobin ; : 1-5, 2024 Aug 23.
Article en En | MEDLINE | ID: mdl-39175389
ABSTRACT
We report the molecular and hematological identifications of two novel δ-globin gene mutations found in Guangxi Zhuang Autonomous Region, China. Capillary electrophoresis of the proband showed 1.3% Hb A2, accompanied by a minor unknown peak (0.7%) within the Z1 zone. High-performance liquid chromatography also revealed the presence of 1.5% Hb A2 and a 0.6% unknown peak. Routine genetic testing (Gap-PCR and reverse dot-blot hybridization) for common α-thalassemia was performed, and no mutations were observed. Sanger sequencing identified a heterozygous mutation for GAC > AAC at codon 79 (HBDc.238G > A) and G > A at polyA + 70 (HBDc.*200G > A) of the δ-globin gene. This variant was named Hb A2-Guangxi [δ79 (EF3) Asp→Asn, HBDc.238G > A] after the geographic origin of the proband.
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Idioma: En Revista: Hemoglobin Año: 2024 Tipo del documento: Article Pais de publicación: Reino Unido
Texto completo
Añadir a Mi BVS
Imprimir
XML
PubMed Links
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Idioma: En Revista: Hemoglobin Año: 2024 Tipo del documento: Article Pais de publicación: Reino Unido