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囊性纤维化的基因定位及其临床应用。

Gene mapping in cystic fibrosis and its clinical applications.

作者信息

Williamson R

机构信息

Cystic Fibrosis Genetics Research Group, St. Mary's Hospital Medical School, Imperial College, London, England.

出版信息

Acta Paediatr Scand Suppl. 1989;363:7-9. doi: 10.1111/apa.1989.78.s363.7.

Abstract

Current techniques in molecular genetics have permitted the localisation of the mutation causing cystic fibrosis to chromosome 7q31, and allowed isolation of very tightly linked markers. It is possible to offer early prenatal diagnosis, carrier testing, and alteration of risk of unaffected partners in most cases. However, community-wide definitive carrier testing and new methods of treatment await the isolation of the gene.

摘要

分子遗传学的现有技术已能将导致囊性纤维化的突变定位到7号染色体的q31区域,并分离出紧密连锁的标记物。在大多数情况下,可以进行早期产前诊断、携带者检测以及改变未受影响伴侣的风险。然而,全社区范围内的确定性携带者检测和新的治疗方法仍有待基因的分离。

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