Greenberg C R, Rohringer M, Jacobs H K, Averill N, Nylen E, van Ommen G J, Wrogemann K
Department of Human Genetics, University of Manitoba, Winnipeg, Canada.
Lancet. 1988 Aug 20;2(8608):425-7. doi: 10.1016/s0140-6736(88)90414-x.
18,000 newborn males were screened for Duchenne muscular dystrophy (DMD) by creatine kinase (CK) analysis of filter paper blood spots between Jan 1, 1986, and Dec 31, 1987. 5 affected boys have been identified, and in 3 of 5 probands molecular deletions or duplications have been found. 3 of 5 mothers were judged highly likely to be carriers of DMD because of repeatedly raised CK levels, identified gene rearrangements, or both abnormalities. 1 mother has a very low probability of being a carrier and 1 is at an intermediate risk. The use of DNA analyses in new DMD probands identified by neonatal screening has allowed confirmation of the diagnosis and accurate assignment of carrier status in mothers and female relatives in over half the cases studied, and may help to reduce the population incidence of DMD by avoiding delay before clinical diagnosis.
1986年1月1日至1987年12月31日期间，通过对滤纸血斑进行肌酸激酶（CK）分析，对18,000名新生男婴进行了杜氏肌营养不良症（DMD）筛查。已确定5名患病男孩，在5名先证者中有3名发现了分子缺失或重复。5名母亲中有3名因CK水平反复升高、已确定的基因重排或两者均异常，被判定极有可能是DMD携带者。1名母亲携带DMD的可能性极低，1名处于中等风险。在新生儿筛查确定的新DMD先证者中使用DNA分析，已在超过半数的研究病例中证实了诊断，并准确确定了母亲和女性亲属的携带者状态，且可能有助于通过避免临床诊断前的延误来降低DMD的人群发病率。
