Hodgson S, Walker A, Cole C, Hart K, Johnson L, Heckmatt J, Dubowitz V, Bobrow M
J Med Genet. 1987 Mar;24(3):152-9. doi: 10.1136/jmg.24.3.152.
A total of 278 families of probands with Duchenne or Becker muscular dystrophy has been ascertained and offered genetic counselling. Linkage studies have been performed in these families using polymorphic DNA markers identifying loci linked to Duchenne and Becker muscular dystrophy. The clinical features of the probands are discussed: there was marked intrafamilial resemblance in the severity of the disease. We estimate that a complete study of potential carriers in these families would require analysis of samples from approximately 1400 subjects. The results of linkage studies tended to move women's carrier risk estimates (based on CK and pedigree data) towards the extremes of the risk categories, providing a more definitive risk estimate for 81% of the women who were previously in the middle range of carrier risk probabilities. About 70% of the families had only one affected member. Linkage analysis altered carrier risk estimates in 95% of sisters and aunts of index cases, but only affected estimates of the mother's carrier risks in about 11% of isolated cases. Even where linkage studies were not helpful in elucidating carrier risks, information could usually be obtained for use in prenatal diagnosis if required. We have assessed the attitudes to pregnancy and prenatal diagnosis of women at risk of being carriers of Duchenne or Becker muscular dystrophy and report 17 pregnancies in these women.
共确定了278个患有杜兴氏或贝克氏肌营养不良症先证者的家庭，并为其提供了遗传咨询。已在这些家庭中使用多态性DNA标记进行连锁研究，这些标记可识别与杜兴氏和贝克氏肌营养不良症相关的基因座。讨论了先证者的临床特征：疾病严重程度在家族内部存在明显相似性。我们估计，要对这些家庭中潜在的携带者进行全面研究，大约需要分析1400名受试者的样本。连锁研究的结果倾向于使女性携带者风险估计值（基于肌酸激酶和系谱数据）向风险类别两端移动，为81%之前处于携带者风险概率中等范围的女性提供了更明确的风险估计。约70%的家庭只有一名受影响成员。连锁分析改变了95%的指数病例姐妹和阿姨的携带者风险估计，但仅在约11%的散发病例中影响了母亲携带者风险的估计。即使连锁研究无助于阐明携带者风险，通常也可以获取信息以供必要时用于产前诊断。我们评估了有杜兴氏或贝克氏肌营养不良症携带者风险的女性对怀孕和产前诊断的态度，并报告了这些女性中的17次怀孕情况。
