Wolff G, Müller C R, Grimm T
Department of Human Genetics, University of Freiburg i Br, Federal Republic of Germany.
J Med Genet. 1989 May;26(5):299-304. doi: 10.1136/jmg.26.5.299.
This report concerns two families in which the index patients are sporadic cases of a benign form of muscular dystrophy. In both families the sisters of the patients have married a close relative. The respective risks for a child of these consanguineous marriages being affected with either X linked Becker muscular dystrophy or autosomal recessive limb girdle muscular dystrophy is calculated using pedigree information, results of serum creatine kinase determinations, and also, in one family, results of DNA typing using RFLPs from the short arm of the X chromosome.
本报告涉及两个家庭，其中的索引患者为良性肌营养不良的散发病例。在这两个家庭中，患者的姐妹均与近亲结婚。利用系谱信息、血清肌酸激酶测定结果，以及在一个家庭中还利用了来自X染色体短臂的限制性片段长度多态性（RFLP）进行DNA分型的结果，计算了这些近亲婚姻所生孩子患X连锁贝克尔肌营养不良或常染色体隐性肢带型肌营养不良的各自风险。
