Alimsardjono H, Mukono I S, Dachlan Y P, Matsuo M
Division of Genetics, Kobe University School of Medicine, Japan.
Jpn J Hum Genet. 1997 Mar;42(1):233-6. doi: 10.1007/BF02766927.
This study reports the molecular characterization of ovalocytosis in Lombok Island, Indonesia. The analysis of genomic DNA by polymerase chain reaction shows that all 21 ovalocytotic individuals have two amplified products of different size from a region encompassing exon 11 of the band 3 gene. The sequence of the larger product matched perfectly with that of normal individuals. In the sequence of the smaller product, 27 nucleotides within exon 11 were deleted. The heterozygous presence of the deletion identified in other parts of Southeast Asia was confirmed in patients with ovalocytosis in an isolated island of eastern Indonesia.
本研究报告了印度尼西亚龙目岛椭圆形红细胞增多症的分子特征。通过聚合酶链反应对基因组DNA进行分析,结果显示,所有21名椭圆形红细胞增多症患者在包含带3基因第11外显子的区域均有两个大小不同的扩增产物。较大产物的序列与正常个体的序列完全匹配。在较小产物的序列中,第11外显子内有27个核苷酸缺失。在印度尼西亚东部一个孤立岛屿的椭圆形红细胞增多症患者中,证实了在东南亚其他地区发现的这种缺失的杂合存在情况。