在北爱尔兰使用限制性片段长度多态性分析对杜氏肌营养不良症家族进行携带者评估。
Carrier estimations in Duchenne muscular dystrophy families in Northern Ireland using RFLP analysis.
作者信息
Kelly E D, Graham C A, Hill A J, Nevin N C
机构信息
Department of Medical Genetics, Queen's University of Belfast.
出版信息
J Med Genet. 1990 Feb;27(2):101-4. doi: 10.1136/jmg.27.2.101.
Intragenic RFLP analysis was used to provide carrier risk estimations on 100 possible female carriers from 22 Duchenne muscular dystrophy families. This enabled 78% of possible carriers to be assigned high or low risks (greater than 90% or less than 10%) as opposed to 26% assigned low risk on pedigree data alone. When a single polymorphism is not informative the use of haplotype analysis for carrier estimations is illustrated for one family.
基因内限制性片段长度多态性（RFLP）分析用于对来自22个杜氏肌营养不良症家庭的100名可能的女性携带者进行携带者风险评估。这使得78%的可能携带者被判定为高风险或低风险（大于90%或小于10%），相比之下，仅根据系谱数据判定为低风险的比例为26%。当单个多态性信息不足时，举例说明了一个家庭如何使用单倍型分析进行携带者评估。
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