Bell J A, Bowling F G, Pearn J H, Martin N J, Veleba A R, McCarthy C M, Trouton C W, Hunt F A, Lynch T B
Med J Aust. 1983 Aug 20;2(4):186-9. doi: 10.5694/j.1326-5377.1983.tb122402.x.
The development and use of the computer-aided retrieval of karyotypes (CAROK), a register of chromosomal abnormalities in Queensland, is described. The six independent cytogenetic laboratories serving the population of 2.2 million contribute data to the register which provides total population information on the occurrence of chromosomal abnormalities, without selection. CAROK policy on confidentiality, security, access, and safety of data is described in detail. A cytogenetic register such as this ensures a reliable permanent file of results, facilitates research, and provides a data base which will enable questions of clustering or secular trends to be answered efficiently. The register is complete for the years 1976-1981, and contains information on 880 consecutive abnormal cases; in this sense, the data constitute an unselected six-year series of diagnosed chromosomal abnormalities in Queensland. These figures show an average incidence figure (over a six-year period) for newly diagnosed cases of chromosomal abnormality of 6.61/100 000 general population per year.
本文介绍了昆士兰染色体异常登记册——计算机辅助核型检索系统(CAROK)的开发与应用情况。为220万人口提供服务的6家独立细胞遗传学实验室向该登记册提供数据,该登记册可提供有关染色体异常发生情况的全人群信息,且无选择性。文中详细介绍了CAROK在数据保密、安全、访问及安全方面的政策。这样一个细胞遗传学登记册可确保有一个可靠的永久结果档案,便于开展研究,并提供一个数据库,能够有效地回答有关聚集或长期趋势的问题。该登记册涵盖了1976 - 1981年的所有数据,包含880例连续异常病例的信息;从这个意义上说,这些数据构成了昆士兰6年未经筛选的确诊染色体异常病例系列。这些数据显示,(在6年期间)新诊断的染色体异常病例每年在普通人群中的平均发病率为6.61/10万。