[Identification of Novel Variations in Exon 1 of ABO Blood Group Gene].
Zhongguo Shi Yan Xue Ye Xue Za Zhi
; 32(4): 1212-1216, 2024 Aug.
Article
de Zh
| MEDLINE
| ID: mdl-39192422
ABSTRACT
OBJECTIVE:
Serological and molecular biology methods were used to identify the blood type of a patient with forward and reverse ABO typing inconsistency, and to explore the genetic characteristics of this blood type.METHODS:
The ABO phenotype of the proband was identified by tube method, and the ABO blood group genotype of the proband and her parents was determined by fluorescent PCR. The 7 exons of the ABO gene were directly sequenced and analyzed.RESULTS:
According to preliminary serological identification, the ABO phenotype of this patient was Bel subtype. Genotyping tests showed that the ABO genotype of the proband and her father was B/O1 , and her mother was O1/O1. Sequencing of exons revealed novel heterozygous variations in exon 1 c.16_17delinsTGTTGCA.CONCLUSION:
The Novel variations in exon 1 led to Bel subtype in the ABO blood group of the proband, and these variations are heritable.Mots clés
Texte intégral:
1
Collection:
01-internacional
Base de données:
MEDLINE
Sujet principal:
Système ABO de groupes sanguins
/
Exons
/
Génotype
Limites:
Female
/
Humans
Langue:
Zh
Journal:
Zhongguo Shi Yan Xue Ye Xue Za Zhi
/
Zhongguo shiyan xueyexue zazhi
Sujet du journal:
HEMATOLOGIA
Année:
2024
Type de document:
Article
Pays d'affiliation:
Chine
Pays de publication:
Chine