Mulley J C, Gedeon A K, Haan E A, Sheffield L J, White S J, Bates L J, Robertson E F, Sutherland G R
Department of Histopathology, Adelaide Children's Hospital, South Australia.
Aust Paediatr J. 1988;24 Suppl 1:92-7.
Thirty-four Duchenne and Becker muscular dystrophy families were initially ascertained from South Australia. These have been tested systematically with the DNA probes XJ1.1 and pERT87-15. DNA results from 21 informative families have been combined with results of CK testing. Pedigree analysis was carried out using the computer program LINKAGE to provide risk figures to potential female carriers. This simple approach separated potential carriers into low or high risk classes (familial cases) or low or moderate risk classes (isolated cases). No prenatal diagnoses were carried out. The detection of deletions in two probands out of 34 makes possible definitive prenatal diagnosis in those families. For the remaining families, prenatal diagnosis could only be offered in terms of a probability statement after linkage analysis. Risk figures presented from hypothetical pedigrees demonstrated that prenatal diagnosis by linkage usually provided reasonable reliability only where informative flanking markers are used.
最初从南澳大利亚确定了34个杜兴氏和贝克氏肌肉营养不良家族。这些家族已用DNA探针XJ1.1和pERT87 - 15进行了系统检测。21个信息丰富家族的DNA结果已与肌酸激酶（CK）检测结果相结合。使用计算机程序LINKAGE进行系谱分析，为潜在的女性携带者提供风险数字。这种简单的方法将潜在携带者分为低风险或高风险类别（家族性病例）或低风险或中度风险类别（散发病例）。未进行产前诊断。在34个先证者中有两个检测到缺失，这使得这些家族能够进行明确的产前诊断。对于其余家族，产前诊断只能在连锁分析后以概率陈述的形式提供。从假设系谱得出的风险数字表明，只有在使用信息丰富的侧翼标记时，通过连锁进行的产前诊断通常才具有合理的可靠性。
