Molecular Diagnosis and Pedigree Analysis of Rare Mutations in Non-coding Region of HBA2 Gene
10.19746/j.cnki.issn1009-2137.2024.03.044
- VernacularTitle:HBA2基因非编码区罕见突变分子诊断及家系分析
- Author:
Li-Zhu CHEN
1
;
Ti-Zhen YAN
;
Jun HUANG
;
Qing-Yan ZHONG
;
Xue QIN
;
Ning TANG
;
Shi-Qiang LUO
Author Information
1. 柳州市妇幼保健院医学遗传科,柳州市出生缺陷重点防治实验室,广西柳州 545001;广西医科大学第一附属医院检验科,广西南宁 530000;柳州市地中海贫血精准防治重点实验室,广西柳州 545001;广西妇产疾病临床医学研究中心,广西柳州 545001
- Keywords:
α-thalassemia;
gene mutation;
HBA2:c.*12G＞A;
3'untranslated region
- From:
Journal of Experimental Hematology
2024;32(3):940-944
- CountryChina
- Language:Chinese
-
Abstract:
Objective:To perform molecular diagnosis and pedigree analysis for one case with α-thalassemia who does not conform to the genetic laws,and explore the effects of a newly discovered rare mutation(HBA2:c.*12G＞A)on clinical phenotypes.Methods:Blood samples of the proband and her family members were collected for blood routine analysis,and the hemoglobin components were analyzed by capillary electrophoresis.The common α-and β-globin gene loci in Chinese population were detected by conventional techniques(Gap-PCR,RDB-PCR).The α-globin gene sequences(HBA1,HBA2)were analyzed by Sanger sequencing.Results:By analyzing the test results of proband and her family members,the genotype of the proband was-α3,7/HBA2:c.*12G＞A,her father was HBA2:c.*12G＞A heterozygous mutation carrier.Conclusion:This study identifies a rare α-globin gene mutation(HBA2:c.*12G＞A)that has not been reported before.It is found that heterozygous mutation carriers present with static α-thalassemia.
