Kimura M, Shimizu Y, Settheetham-Ishida W, Soemantri A, Tiwawech D, Romphruk A, Duangchan P, Ishida T
Department of Biological Sciences, School of Science, University of Tokyo, Japan.
Hum Biol. 1998 Dec;70(6):993-1000.
Screening for a 27-bp deletion in the band 3 protein gene that causes Southeast Asian/Melanesian ovalocytosis (SAO) was carried out using the PCR method among 15 Southeast Asian populations of Thailand (Akha, Hmong, Isaan, Red Karen, White Karen, Black Lahu, Lisu, Manni, Shan, and central Thais) and Indonesia (Bugis, Dayak, Javanese, Madurian, and Toraja). Individuals with the 27-bp deletion were identified only in the Bugis of southern Sulawesi, the Dayak of southern Borneo, and Javanese of central Java. The gene frequency of the 27-bp deletion in the general population was rather low: 0.012 and 0.013 in the Dayak and the Bugis, respectively. This restricted ethnic and geographic distribution of the 27-bp deletion suggests (1) local differentiation in the prevalence of this deletion in a given ethnic group and (2) the presence of molecular heterogeneity of SAO.
采用聚合酶链反应（PCR）方法，对泰国的15个东南亚群体（阿卡族、苗族、伊桑族、红克伦族、白克伦族、黑拉祜族、傈僳族、曼尼族、掸族和泰国中部人群）以及印度尼西亚的群体（布吉斯族、达雅克族、爪哇族、马都拉族和托拉查族）进行筛查，以检测导致东南亚/美拉尼西亚椭圆形红细胞增多症（SAO）的带3蛋白基因中的27个碱基对缺失。仅在南苏拉威西的布吉斯族、南婆罗洲的达雅克族和中爪哇的爪哇族中发现了携带27个碱基对缺失的个体。在普通人群中，27个碱基对缺失的基因频率相当低：达雅克族和布吉斯族分别为0.012和0.013。这种27个碱基对缺失在种族和地理上的分布受限表明：（1）在特定种族群体中，该缺失的患病率存在局部差异；（2）SAO存在分子异质性。
