Tay J S
Department of Pediatrics, National University of Singapore, Singapore.
Southeast Asian J Trop Med Public Health. 1995;26 Suppl 1:19-25.
This paper is a brief review of the scope of research and clinical work in human genetics in Singapore. Clinical genetics and karyotyping were established in the early sixties. G6PD deficiency was discovered then as the commonest cause of kernicterus in the newborn. Screening of all newborns was instituted. The measures taken have been very successful and kernicterus is virtually unknown since the early 1970s. Numerous G6PD variants have been discovered and characterized. During the 1980s the emphasis shifted to molecular genetics. Work on the molecular genetics of alpha- and beta-thalassemias, Duchenne muscular dystrophy, hemophilia and retinoblastoma have been established, and good progress on diseases such as neurofibromatosis, leukemias, and lymphoid malignancies. The diagnosis of tuberculosis by DNA amplification (PCR) has been successfully implemented. Numerous papers have been published on the molecular genetics of coronary artery disease, as well as in population genetics.
本文简要回顾了新加坡人类遗传学的研究范围和临床工作。临床遗传学和染色体核型分析始于20世纪60年代初。当时发现葡萄糖-6-磷酸脱氢酶（G6PD）缺乏是新生儿核黄疸最常见的病因，并对所有新生儿进行筛查。所采取的措施非常成功，自20世纪70年代初以来，核黄疸几乎已不见踪影。现已发现并鉴定了众多G6PD变体。20世纪80年代，重点转向分子遗传学。关于α和β地中海贫血、杜氏肌营养不良症、血友病和视网膜母细胞瘤的分子遗传学研究已经开展，并且在神经纤维瘤病、白血病和淋巴系统恶性肿瘤等疾病的研究上取得了良好进展。通过DNA扩增（PCR）诊断结核病已成功实施。关于冠状动脉疾病的分子遗传学以及群体遗传学方面已发表了大量论文。
