Detection of three common, deletional alpha-thalassemia determinants in Southern China by a single-tube multiplex polymerase chain reaction method.
alpha-Thalassemia (thal) is one of the most common inherited disorders in the world and in Southern China. Three large deletions of the alpha-globin gene, namely the -alpha3.7 and -alpha4.2 (single gene deletions), and --SEA (Southeast Asian double gene deletion), are the main alpha-thal abnormalities in Southern China. We have developed a reliable, single-tube multiplex polymerase chain reaction (m-PCR) assay for these three most frequently observed determinants in Southern China. By using this assay, we detected 40 alpha-thal patients from Guangdong, Guangxi Province, and analyzed 116 blood samples from the Li ethnic group of Hainan Province. To our surprise, the combined incidence of -alpha3.7 and -alpha4.2 was found to be as high as 38.0% among the Li people, and the -alpha4.2 genotype is more frequent than -alpha3.7 in the Li people. No SEA deletions were found in the Li samples.
The Center of Gene Diagnosis and Gene Therapy, Beijing Chaoyang Hospital, Capital University of Medical Science, Beijing, China. liujz@public.bta.net.cn
Jing Zhong
JZ
Liu
Cai Ying
CY
Ou
Li Rong
LR
Wang
Bai
B
Xiao
Li Jia
LJ
Huang
Li Chang
LC
Chen
D001483:Base Sequence; D002681:China; D017931:DNA Primers; D005820:Genetic Testing; D006801:Humans; D008969:Molecular Sequence Data; D009154:Mutation; D016133:Polymerase Chain Reaction; D017384:Sequence Deletion; D017085:alpha-Thalassemia / Q000235:genetics*
D017931:DNA Primers