Roses A D, Roses M J, Nicholson G A, Roe C R
Neurology. 1977 May;27(5):414-21. doi: 10.1212/wnl.27.5.414.
Thirty mothers of patients with Duchenne muscular dystrophy were studied with serum enzyme tests, including serum glutamic-oxaloacetic transminase, creatine kinase, and lactate dehydrogenase isoenzymes. In addition, females from the mothers' pedigrees were studied. Lactate dehydrogenase isoenzyme 5 determinations were as senitive an indicator of carrier status as creatine kinase and also identified several mothers who had normal dehydrogenase isoenzyme 5 determinations, as well as extensive pedigree testing, identified 28 to 30 mothers as probable heterozygotes. These data independently support the suggestion that cases of Duchenne muscular dystrophy as a result of spontaneous mutation are more uncommon than currently accepted.
对30名杜氏肌营养不良症患者的母亲进行了血清酶检测，包括血清谷草转氨酶、肌酸激酶和乳酸脱氢酶同工酶。此外，还对这些母亲家系中的女性进行了研究。乳酸脱氢酶同工酶5的测定与肌酸激酶一样，是携带者状态的敏感指标，并且还发现了几位乳酸脱氢酶同工酶5测定结果正常的母亲，以及广泛的家系检测，确定28至30位母亲可能为杂合子。这些数据独立支持了以下观点：因自发突变导致的杜氏肌营养不良症病例比目前公认的更为罕见。
