[Detection of deletional determinants of alpha-thalassemia in Li people in Hainan province by a single tube multiplex polymerase chain reaction method].
OBJECTIVE
To develop a single tube multiplex polymerase chain reaction technique (mPCR) and use it to screen 3 deletional alpha-globin genes, namely -alpha(3.7), -alpha(4.2) (single gene deletion), and --SEA (South East Asia double gene deletion) in the Li people in Hainan province.


METHODS
Based on previously developed 3 separate PCR methods used to detect the -alpha(3.7), -alpha(4.2), --SEA respectively, a single tube mPCR was investigated, optimized, and used to detect the genotypes of 40 samples from well-known alpha-thalassemia patients and 116 non-relative individuals of Li nationality in Hainan province.


RESULTS
The results of the 40 samples detected by mPCR were the same as those by the 3 separate PCR Methods. Among the 116 sample, the combined incidence of -alpha(3.7) and -alpha(4.2) was found to be as high as 38.0%, and the -alpha(4.2) genotype was more frequent than the -alpha(3.7) genotype in the Li people. No --(SEA) deletion was found in the Li people.


CONCLUSIONS
The mPCR technique shows a good sensitivity and specificity. The Hainan Li people has the highest incidence of -alpha(3.7) and -alpha(4.2) among Chinese.
Liu
Jing-zhong
JZ
Clinical Laboratory Center, Beijing Chaoyang Hospital affiliated to Capital University of Medical Sciences, Beijing 100020, China.
Ou
Cai-ying
CY
Wang
Li-rong
LR
Xiao
Bai
B
Huang
Li-jia
LJ
Zhou
Yan
Y
Chen
Li-chang
LC
D000328:Adult; D002681:China; D017353:Gene Deletion; D005914:Globins / Q000235:genetics*; D006801:Humans; D016133:Polymerase Chain Reaction / Q000379:methods; D017085:alpha-Thalassemia / Q000175:diagnosis / Q000235:genetics*
D005914:Globins