Prevalence status and rare genotypes detection of thalassemia in Hainan Li nationality
HU Jun-jie
CHEN Xin-ping
WANG Jie
ZHANG Ji-ye
LI Xiao-juan
ZHAO Li-qiang
XU Wei-hua
YU Yong-juan
WEN Hai-feng
WEN Shu
LI Ling-yun
CHEN Xue-yin
FU Sheng-miao
Abstract：Objective To investigate the prevalence status and detect rare genotypes for thalassemia ( thal.) in Li nationality of Hainan province .Methods Blood cells analysis, hemoglobin electrophoresis and routine thalassemia genotype detection were carried out in Li participants from middle school .Sequence analysis was performed in participants with inconsistent results of blood cell analysis and hemoglobin electrophoresis .Results From 3 934 subjects of Li nation-ality and 2 611 subjects of Han nationality, thal gene carrying rate were 57.24%and 21.56%, respectively.The frequen-cies of α-thal were 52.19%and 19.11%, respectively.Both Li and Han participants carried high frequencies with -α3.7 and -α4.2.The frequencies of β-thal were 1.86%and 1.95%, respectively; and the CD41-42 was the most frequent mutation types .The frequencies of both α-thal and β-thal were 3.20%and 0.50%, respectively.The major types in Li participants were -α3.7/CD41-42,-α3.7/-α4.2/CD41-42,-α4.2/CD41-42; and 3 rare mutant genotypes were found from DNA sequencing in 203 Li samples (0.076%).Conclusion The incidence of thal is high in Hainan Province, which is more prominent in Li nationality .Many rare genotypes are revealed in Li population , suggesting an important genetic resource.
Keywords：Li peopleblood cells analysishemoglobin electrophoresisgenetic testingsequencing
Publication Date：2018-01-01
Online Publishing Date：2025-08-15(First online date of this platform, not the publication date of the document)
Pages：7( 1471-1477 )