Milunsky J M, Skare J C, Milunsky A
Center for Human Genetics, Boston University School of Medicine, Massachusetts 02118.
Am J Med Sci. 1991 Apr;301(4):231-7. doi: 10.1097/00000441-199104000-00001.
Advances in neurogenetics are facilitating clinical care. Localization of the mutant gene that causes myotonic muscular dystrophy (DM) to chromosome 19 enabled our predictive testing using linked DNA probes in 74 members of 12 families at risk. Individuals sought either diagnostic confirmation or exclusion with childbearing in mind, or requested prenatal diagnosis. Valuable information was provided for 11 of 12 families. Of 14 individuals at 50% risk, 12 learned they did not have DM, two learned they did (although presymptomatic), and prenatal diagnoses of affected fetuses were made in three families--all with high degrees of certainty. The future opportunity for prenatal diagnosis was provided for 3 other families. The potential health risks to an affected female and her affected or nonaffected fetus provide cogent reasons for physicians to inform DM families in their care about these important advances and opportunities to avert grave complications.
神经遗传学的进展推动了临床护理。将导致强直性肌营养不良（DM）的突变基因定位到19号染色体，使我们能够使用连锁DNA探针，对12个有风险家庭的74名成员进行预测性检测。个体进行检测的目的要么是确认诊断结果，同时考虑生育问题，要么是排除患病可能，或者是要求进行产前诊断。为12个家庭中的11个提供了有价值的信息。在14名患病风险为50%的个体中，12人得知自己没有患DM，2人得知自己患病（尽管尚无症状），并且在三个家庭中对受影响的胎儿进行了产前诊断——所有诊断都具有很高的确定性。还为另外3个家庭提供了未来进行产前诊断的机会。患病女性及其受影响或未受影响的胎儿面临的潜在健康风险，为医生向其护理的DM家庭通报这些重要进展以及避免严重并发症的机会提供了令人信服的理由。
