Study on gene mutations of alpha-thalassemia in the South of China.
- Author:
Shan DUAN
1
;
Hong-Yi LI
;
Zheng CHEN
;
Su-Qin CHEN
;
Xiong-Jie BI
;
Lu-Ming CHEN
;
Chuan-Shu DU
Author Information
1. Department of Medical Genetics, Sun Yat-sen Medical College, Sun Yat-sen University, Guangzhou 510089, China.
- Publication Type:Journal Article
- MeSH:
Base Sequence;
China;
DNA;
chemistry;
genetics;
DNA Mutational Analysis;
Gene Deletion;
Gene Frequency;
Genotype;
Globins;
genetics;
Hemoglobin H;
genetics;
Hemoglobins;
genetics;
Hemoglobins, Abnormal;
genetics;
Humans;
Molecular Sequence Data;
Mutation;
Polymorphism, Single-Stranded Conformational;
alpha-Thalassemia;
genetics;
pathology
- From:
Journal of Experimental Hematology
2003;11(1):54-60
- CountryChina
- Language:Chinese
-
Abstract:
There is a high prevalence of thalassemia in the South of China. To explore the genotype of alpha-thalassemia as well as the distribution of alpha globin gene mutation in the South of China, 356 patients with heterozygote alpha(+) thalassemia, heterozygote alpha(0) or homozygote alpha(+) thalassemia and 78 patients with HbH were analyzed. The gene diagnosis methods including Gap-PCR, nested-PCR, PCR-RE, PCR-SSCP, 4P-ASPCR and DNA sequence analysis were used. The results showed that among 356 patients, 295 patients with --SEA/alphaalpha (82.87%), 1 patient with alphaalpha/alpha-alpha(3.7) (0.28%), 3 patients with alphaalpha/alpha-alpha(4.2) (0.84%), 3 patients with alphaalpha/alpha(CS)alpha (0.84%), 1 patient with alphaalpha/alphaalpha(QS) (0.28%) and 2 patients with alphaalpha/alpha(Westmead) alpha (0.56%) were found. The homozygote with -alpha(4.2) or -alpha(3.7) was not found. In 78 patients with HbH, 29 patients with --SEA/alphaalpha(-3.7) (37.2%), 20 patients with --SEA/alphaalpha(-4.2) (25.6%), 19 patients with --SEA/alphaalpha(CS) (24.3%), 2 patients with --SEA/alphaalpha(QS) (2.6%) were detected, and other remaiming 8 patients were needed to be defined. Among the non-defined 8 patients, the synonymous mutation with C-->G transversion (GCC-GCG) at codon 65 in the exon 2 of alpha 2-globin gene was detected in 2 unrelated HbH patients came from Guangxi province. Whether it correlated with the phenotype of HbH disease or it is only a single nucleotide polymorphism site (SNPs), should be confirmed in the future. In addition, a set of gene diagnosis methods based on PCR to screen deletion and non-deletion genotypes of alpha-thalassemia in Chinese was improved. A new method, 4P-ASPCR, to detect Hb CS and Hb QS was also developed. The method was verified to be more accurate, time-saving and economic. In conclusion, the genotypes of alpha-thalassemia in Chinese are very complicated, the genotypes of alpha-thalassemia in Chinese need to be further studied, the results of this research probably have practical significance for the gene diagnosis or antenatal diagnosis of alpha-thalassemia in the South of China.
