Libert J, Tondeur M, Van Hoof F
Birth Defects Orig Artic Ser. 1976;12(3):221-39.
In most inborn errors of metabolism, the detection of heterozygotes is either impossible, or is feasible only on a statistical basis, so that some uncertainty always remains in that diagnosis. Heterozygote detection is by far more imperative in sex-linked diseases than in autosomal recessive disorders. Indeed, female carriers are at risk of having affected children whatever is the genome of their husband. The method we describe realizes the secure detection of heterozygotes in Fabry disease. It combines the ultrastructural examination of conjunctival biopsies and the assay of thermolabile alpha-galactosidase in tears. The technique is harmless and relatively simple: Both biopsy and tear collection were performed at home in most of the subjects.
在大多数先天性代谢缺陷中，杂合子的检测要么是不可能的，要么仅在统计学基础上可行，因此该诊断始终存在一定的不确定性。与常染色体隐性疾病相比，杂合子检测在性连锁疾病中更为迫切。事实上，无论其丈夫的基因组如何，女性携带者都有生育患病子女的风险。我们所描述的方法实现了法布里病杂合子的可靠检测。它结合了结膜活检的超微结构检查和泪液中热不稳定α-半乳糖苷酶的测定。该技术无害且相对简单：在大多数受试者中，活检和泪液采集均在家中进行。
