摘要
目的研究海南省汉、黎族人群中东南亚型缺失(--SEA)、右侧缺失(-α3.7)和左侧缺失(-α4.2)三种α-地中海贫血缺失突变的携带率、基因频率及基因型的分布特点。方法应用聚合酶链反应(PCR)技术直接筛查海南省汉、黎族人群中的东南亚型缺失(--SEA)、右侧缺失(-α3.7)和左侧缺失(-α4.2)三种α-地中海贫血缺失突变。结果在197例海南汉族人中检出25例α-地中海贫血携带者,携带率为12.69%;三种α-地中海贫血缺失突变的基因频率为0.0635,其中--SEA、-α3.7和-α4.2的基因频率分别为0.0127、0.0305、0.0203,共发现--SEA/αα、-α3.7/αα和-α4.2/αα三种基因型,其中--SEA/αα5例,-α3.7/αα12例,-α4.2/αα8例。在201例海南黎族人中检出114例α-地中海贫血携带者,携带率为56.72%,三种α-地中海贫血缺失突变的基因频率为0.3607,其中--SEA、-α3.7和-α4.2的基因频率分别为0.3607、0.0075、0.1891,共发现--SEA/αα、-α3.7/αα、-α3.7/-α3.7、-α3.7/-α4.2、-α4.2/αα、和-α4.2/-α4.2六种基因型,其中--SEA/αα3例,-α3.7/αα39例,-α3.7/-α3.76例,-α3.7/-α4.218例,-α4.2/αα38例,-α4.2/-α4.210例。结论海南省汉、黎族人群是α-地中海贫血的高发群体。
Objective To investigate the incidences, the allelic frequencies and the genotypes frequencies of three a - tha- lassemia deletion types（ - - SEA -α^3.7 -α^4.2）and their distributions in Han and Li nationalities in Hainan Province. Methods Three α- thalassemia deletion types, i.e Southeast Asia deletion（ - - SEA）, right deletion（ -α^3.7） and left deletion（-α^4.2）, were screened based on polymerase chain reaction （PCR） in Han and Li nationalities in Hainan. Results 25 carriers were detected in 197 Han individuals, and the incidence of carders was 12.69%. The gene frequency of these three deletion types was 0.0127, 0. 0305 and 0.0203 respectively, totally 0.0635 in Han nationality in Hainan. Three genotypes of 5 （ --^SEA/αα） cases, 12 （ -α^3.7/ αα） cases and 8 （ -α^4.2/αα） cases were detected. On the contrary, 114 carriers were detected from 201 individuals in Li nationality, and the incidence of carriers was 56.72% . The gene frequency of these three deletion types was 0.0075, 01716 and 0.1891 respectively, totally 0.3607 in Li nationality. Six genotypes were detected including 3 （ - - SEA/aa） cases, 39 （ - a3＂7/aa） cases, 6 （-α^3.7/ -α^3.7） cases, 18 （ -α^3.7/-α^4.2） cases,38 （ -α^4.2/αα） cases and 10 （ -α^4.2/-α^4.2） cases. Conclusion There is a high incidence of α - thalassemia in Han and Li nationalities in Hainan province.
出处
《中国热带医学》
CAS
2006年第9期1549-1551,共3页
China Tropical Medicine
基金
海南省教育厅资助课题(NO.1998-28)
海南医学院重点学科资助课题(海医学[2005]46号)
