Loonen M C, Schram A W, Koster J F, Niermeijer M F, Busch H F, Martin J J, Brouwer-Kelder B, Mekes W, Slee R G, Tager J M
Clin Genet. 1981 Jan;19(1):55-63. doi: 10.1111/j.1399-0004.1981.tb00668.x.
In 21 obligate and 9 possible heterozygotes for acid maltase deficiency (AMD) (glycogenosis 2, Pompe's disease), different methods of identifying heterozygotes have been studied. Heterozygosity could not be demonstrated by physical examination, serum CPK assays, morphological examination of muscle biopsy (including light-microscopy, histochemistry and electron-microscopy), or by ultrastructural examination of a skin biopsy. Heterozygotes could be identified to a large, but still limited extent, by measuring the acid alpha-glucosidase activity in urine, cultivated fibroblasts, leucocytes, or skeletal muscle. Heterozygotes for the generalized from of AMD could not be distinguished from those for the muscular form. The limitations of heterozygote identification by means of enzyme assays are discussed, and some practical aspects for genetic counselling are mentioned.
在21例酸性麦芽糖酶缺乏症（AMD）（糖原贮积病2型，庞贝病）的 obligate 杂合子和9例可能的杂合子中，研究了鉴定杂合子的不同方法。通过体格检查、血清肌酸磷酸激酶检测、肌肉活检的形态学检查（包括光学显微镜、组织化学和电子显微镜检查）或皮肤活检的超微结构检查，均无法证实杂合性。通过测量尿液、培养的成纤维细胞、白细胞或骨骼肌中的酸性α-葡萄糖苷酶活性，可以在很大程度上但仍有限地鉴定出杂合子。全身性AMD的杂合子与肌肉型AMD的杂合子无法区分。讨论了通过酶测定鉴定杂合子的局限性，并提及了遗传咨询的一些实际问题。
