Molecular genetic diagnosis of a carrier with rare α-thalassemia mutations.
10.3760/cma.j.issn.1003-9406.2019.04.019
- Author:
Qiang MA
1
;
Qingsong LIU
2
;
Yan CAI
2
;
Jianlan SHAO
3
;
Cheng HE
4
;
Xin QING
4
;
Qilin SONG
2
;
Fang DENG
2
;
Xiaolan GUO
2
Author Information
1. Department of Clinical Laboratory of the Affiliated Hospital, Translational Medicine Research Center, Department of Laboratory Medicine, North Sichuan Medical College, Nanchong, Sichuan 637000, China. Email: alan5200@hotmail.com.
2. Department of Clinical Laboratory, the Affiliated Hospital, Translational Medicine Research Center, Department of Laboratory Medicine, North Sichuan Medical College, Nanchong, Sichuan 637000, China. Email: alan5200@hotmail.com.
3. Department of Gynecology and Obstetrics, the Affiliated Hospital of North Sichuan Medical College, Nanchong, Sichuan 637000, China.
4. Department of Clinical Laboratory, the Affiliated Hospital of North Sichuan Medical College, Nanchong, Sichuan 637000, China.
- Publication Type:Case Reports
- MeSH:
Genotype;
Heterozygote;
Humans;
Mutation;
alpha-Thalassemia;
genetics
- From:
Chinese Journal of Medical Genetics
2019;36(4):368-370
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVE:To explore the cause of inconsistent genotypes for an α-thalassemia carrier by using two commercial genotyping kits.
METHODS:GAP-PCR and PCR-reverse dot blotting (PCR-RDB) were employed to determine the genotype of the carrier, while Sanger sequencing was used to verify the results.
RESULTS:Sequencing analysis demonstrated that the subject has carried a α1 globin gene with a 3.7 kb heterozygous deletion. In addition, two novel mutations, IVS-II-55(T>G) and IVS-II-119(G>TCGGCCC), were found in intron 2 of α2 globin gene.
CONCLUSION:The two mutations located in the binding regions of PCR primers have caused failure of PCR amplification and misreading of the genotype. Combination of clinical and hematological phenotypes is indispensible to infer the genotype of carriers for accurate diagnosis.
