Hundrieser J, Sanguansermsri T, Papp T, Laig M, Flatz G
Abteilung für Humangenetik, Medizinische Hochschule, Hannover, Federal Republic of Germany.
Hum Genet. 1988 Sep;80(1):90-4. doi: 10.1007/BF00451464.
DNA haplotypes and frameworks (numbers in parenthesis) linked to the beta-globin gene were determined by restriction fragment analysis using eight restriction endonucleases on 86 (97) chromosomes bearing the normal beta-globin gene (HBBA) and 108 (118) chromosomes bearing HBBE in subjects homozygous for HBBA or HBBE from three South-East Asian populations with high HBBE frequencies (northern Thailand, north-eastern Thailand and Cambodia). A systematic nomenclature for beta-globin gene-linked haplotype characterized by six polymorphic sites is introduced. In all populations, HBBA occurred preferentially (greater than 80%) in linkage with the haplotype 41 (+----+) and all three frameworks described by Antonarakis et al. (1982). In contrast, almost 80% of the HBBE genes occurred with the haplotype 27 (-+- ). In northern and north-eastern Thailand, HBBE was present almost exclusively in frame-work 2; HBBE in framework 3 (Asian) was limited to the Khmer population of Cambodia, and the frequency of HBBE-linked framework 3 increased from the west to the east in this country.
通过对来自三个HBBE频率较高的东南亚人群（泰国北部、泰国东北部和柬埔寨）中携带正常β-珠蛋白基因（HBBA）的86条（97条）染色体以及携带HBBE的108条（118条）染色体，使用8种限制性内切酶进行限制性片段分析，确定了与β-珠蛋白基因相关的DNA单倍型和框架（括号内数字）。引入了一种以六个多态性位点为特征的β-珠蛋白基因相关单倍型的系统命名法。在所有人群中，HBBA优先（大于80%）与单倍型41（+----+）以及Antonarakis等人（1982年）描述的所有三个框架连锁出现。相比之下，近80%的HBBE基因与单倍型27（-+-）一起出现。在泰国北部和东北部，HBBE几乎只存在于框架2中；框架3（亚洲型）中的HBBE仅限于柬埔寨的高棉人群，并且在该国，与HBBE连锁的框架3的频率从西向东增加。
