Wilton S D, Goldblatt J, Laing N G
Australian Neuromuscular Research Institute, QEII Medical Centre, Nedlands.
Prenat Diagn. 1993 Aug;13(8):757-62. doi: 10.1002/pd.1970130810.
The polymerase chain reaction (PCR) was used on material from a blighted ovum to confirm indirectly the carrier status of a woman with a family history of Becker muscular dystrophy. Conventional testing including creatine kinase levels, muscle biopsy, and EMG had been inconclusive, and on the basis of one elevated creatine kinase level, the woman had been designated a possible carrier. Ultrasound examination at 10 weeks of pregnancy indicated a blighted ovum, from which DNA was subsequently extracted and subjected to PCR testing for determination of sex and genotypic status with respect to the known familial deletion of the dystrophin gene. The blighted ovum was found to have a Y chromosome and also to be deleted for at least exon 6 of the dystrophin gene, indirectly indicating that the mother most likely carried the family mutation for Becker muscular dystrophy.
对来自一个枯萎卵的材料进行聚合酶链反应（PCR），以间接确认一名有贝克型肌营养不良家族病史的女性的携带者状态。包括肌酸激酶水平、肌肉活检和肌电图在内的传统检测结果不明确，基于一次肌酸激酶水平升高，该女性被判定为可能的携带者。妊娠10周时的超声检查显示为枯萎卵，随后从中提取DNA，并进行PCR检测，以确定关于肌营养不良蛋白基因已知家族性缺失的性别和基因型状态。发现该枯萎卵有一条Y染色体，并且肌营养不良蛋白基因至少第6外显子缺失，这间接表明母亲很可能携带贝克型肌营养不良的家族突变。
