Beaudet A L, Caskey C T
Clin Genet. 1978 Mar;13(3):251-8. doi: 10.1111/j.1399-0004.1978.tb01178.x.
The alpha-galactosidase/beta-hexosaminidase ratio was measured for individual hair roots as a method for heterozygote detection in Fabry's disease. Hair root analysis in control individuals revealed no striking sex difference in alpha-galactosidase/beta-hexosaminidase ratio when five males and five females were compared. The values for the ratio X 100, calculating both enzyme activities in nmol of product per min per microliter of hair extract, ranged from 0.8 to 9 for controls and from less than 0.1 to 0.4 for two hemizygous males. Hair root analysis in four heterozygotes with clinical evidence of disease gave values for each individual in the control range, in the range for hemizygotes and in an intermediate range. The experience using hair root analysis for heterozygote detection in the X-linked Lesch-Nyhan syndrome suggests that this approch will be a sensitive heterozygote detection method which takes advantage of the occurrence of hairs with a deficient phenotype on the basis of Lyonization. We observed an affected male who was born to a female without clinical or biochemical evidence (examination included extensive hair root analysis) of Fabry's disease, thus documenting a likely instance of new mutation.
测定了各个发根的α-半乳糖苷酶/β-己糖胺酶比值，作为法布里病杂合子检测的一种方法。对5名男性和5名女性对照个体进行的发根分析显示，在比较α-半乳糖苷酶/β-己糖胺酶比值时，未发现明显的性别差异。以每微升毛发提取物中每分钟产生的产物纳摩尔数计算两种酶活性时，对照个体的该比值×100的值在0.8至9之间，两名半合子男性的值则小于0.1至0.4。对4名有疾病临床证据的杂合子进行的发根分析显示，每个个体的值处于对照范围、半合子范围及中间范围。在X连锁的莱施-奈恩综合征中使用发根分析进行杂合子检测的经验表明，这种方法将是一种敏感的杂合子检测方法，它利用了基于莱昂化出现的具有缺陷表型的毛发。我们观察到一名患病男性，其母亲无法布里病的临床或生化证据（检查包括广泛的发根分析），从而记录了一个可能的新突变实例。
