Frequency of carriers of chronic (type I) Gaucher disease in Ashkenazi Jews.
Frequency of carriers of chronic (type I) Gaucher disease in Ashkenazi Jews.
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德系犹太人中慢性（I 型）戈谢病携带者的频率。
DOI：
10.1002/ajmg.1320270309
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发表时间：
1987
期刊：
影响因子：
--
通讯作者：
J. Reynolds
中科院分区：
文献类型：
--
作者：
Yehuda Maloth;S. Chazán;A. Cnaan;I. Gelernter;C. Klibansky;J. Reynolds
在这项研究中，我们通过检测635名献血者（441名德系犹太人）和57名强制性杂合子的白细胞糖脑苷酶活性，估计德系犹太人中慢性（I型）戈谢病携带者的频率。利用白细胞中葡萄糖脑苷酶（β -葡萄糖苷酶）的缺陷进行估计，由于正常和杂合子中存在相当大的酶活性重叠而变得复杂。实验采用14C标记的天然底物。判别分析用于建立强制性杂合子和正常（非德系犹太人）受试者之间的最佳截断点，以估计携带者的频率。应用于德系犹太人群体，截止点鉴定3.17%为杂合子。校正分类错误后，携带者率估计为4.67%。这一数字与根据以色列确定的临床戈谢病已知病例数估计的4%的带菌率很好地吻合。
In this study we estimate the frequency of carriers of chronic (type I) Gaucher disease among Ashkenazi Jews by examining the glucocerebrosidase activity in leukocytes in a population of 635 blood donors (441 Ashkenazi) and 57 obligatory heterozygotes. Estimation using the defect in the enzyme glucocerebrosidase (beta-glucosidase) in leukocytes is complicated by the existence of considerable overlap between enzyme activity in normals and in heterozygotes. The assay was carried out with a natural substrate labeled with 14C. Discriminant analysis was used to establish an optimal cutoff point between the obligatory heterozygotes and normal (non-Ashkenazi) subjects for the purpose of estimating frequency of carriers. Applied to the Ashkenazi group, the cutoff point identified 3.17% as heterozygotes. Corrected for errors in classification, the carrier rate was estimated as 4.67%. This figure is in good agreement with a carrier rate of 4% estimated from the number of known cases of clinical Gaucher disease ascertained in Israel.