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应用双链ＤＮＡ循环测序法，对中国人群中２０例血液学正常个体，７７例β－珠蛋白合成异常患者（４３例）及其部分亲属（３４例）的β珠蛋白基因上游－５３０基序进行了序列分析。结果表明，中国人－５３０基序存在（ＡＴ）＿８Ｔ＿５、（ＡＴ）７＿Ｔ＿７和（ＡＴ）９＿Ｔ＿５三种主要的重排类型，以及一种未见报道的稀有重排类型（ＡＴ）＿（１０）Ｔ＿３。进一步经家系连锁分析，获得由β珠蛋白结构基因与－５３０基序重排组成的单体型，结果显示ＩＶＳ－ＩＩ－６５４（Ｃ→Ｔ），ＣＤ４１－４２（－４ｂｐ）和ＨｂＥ等类型的β珠蛋白突变基因分别与（ＡＴ）＿８Ｔ＿５、（ＡＴ）＿７Ｔ＿７和（ＡＴ）＿９Ｔ＿５重排存在着连锁不平衡现象。
Double-stranded DNA cycle sequencing was used to detect the β-globin gene upstream-530 motif in 20 hematological normal subjects, 77 patients with β-globin synthesis abnormalities (43 cases) and some relatives (34 cases) Sequence analysis was performed. The results showed that there are three major rearrangements of (AT) _8T_5, (AT) 7_T_7 and (AT) 9_T_5 in the Chinese -530 motif and an unreported rare rearrangement type (AT) T_3. Further analysis by linkage analysis revealed haplotypes consisting of β-globin structural gene and -530 motif rearrangement. The results showed that IVS-II-654 (C → T), CD41-42 (-4bp) and HbE (AT) _8T_5, (AT) _7T_7 and (AT) _9T_5 rearrangements, respectively, exist linkage disequilibrium.