Black S H, Pelias M Z, Miller J B, Blitzer M G, Shapira E
Am J Med Genet. 1986 Oct;25(2):273-9. doi: 10.1002/ajmg.1320250211.
We describe a large consanguineous German-Acadian ("Cajun") family from a rural area in Louisiana in which 11 persons in two generations had the Maroteaux-Lamy syndrome. The mutant arylsulfatase B enzyme in this family was similar to the mutant enzyme in previously studied families in its cross-reactivity with specific antibodies to the enzyme, but it differed in both its electrophoretic mobility and its residual enzymatic activity. These findings indicate that a different mutational event leading to Maroteaux-Lamy syndrome occurred in this family.
我们描述了一个来自路易斯安那州农村地区的庞大近亲德裔阿卡迪亚人（“卡津人”）家族，该家族两代人中共有11人患有马罗-拉米综合征。这个家族中的突变芳基硫酸酯酶B酶，在与该酶的特异性抗体的交叉反应性方面，与先前研究的家族中的突变酶相似，但在电泳迁移率和残余酶活性方面有所不同。这些发现表明，导致该家族出现马罗-拉米综合征的是一个不同的突变事件。
