Aviner Shraga, Garty Ben-Zion, Rachmel Avinoam, Baris Hagit N, Sidransky Ellen, Shuffer Avinoam, Attias Joseph, Yaniv Yisaac, Cohen Ian J
Department of Pediatrics, Barzilai Medical Center, Ashkelon, Faculty of Health Sciences, Ben-Gurion University of the Negev, Beer-Sheva, Israel.
Blood Cells Mol Dis. 2009 Nov-Dec;43(3):294-7. doi: 10.1016/j.bcmd.2009.08.004. Epub 2009 Sep 5.
Patients with Gaucher disease (GD) are divided into three types based on the presence and rate of progression of the neurologic manifestations. While type 1 GD has a strong predilection in the Jewish Ashkenazi population, both other types lack such a propensity. We report the occurrence of type 2 GD (GD2) in four pregnancies in two Jewish families in Israel (in one case the mother was not Ashkenazi but was from a Sfaradi Jewish family) and also review seven additional cases of GD2 in Ashkenazi Jewish families reported in the literature. Phenotypically, GD2 in Ashkenazi Jews does not differ significantly from this form in other ethnic groups. Genotypic analysis of probands from the two Israeli families demonstrates that each carried two heterozygous glucocerebrosidase mutations. We could find no explanation why GD2 is so rare in the Jewish Ashkenazi population but we could hypothesize that homozygosity for certain Ashkenazi alleles might be lethal, leading to a lower than expected frequency of GD2 and noted that no cases of homozygous L444P has ever been described in Ashkenazi Jews.
戈谢病（GD）患者根据神经学表现的有无及进展速度分为三型。1型GD在犹太阿什肯纳兹人群中具有强烈的易感性，而其他两型则缺乏这种倾向。我们报告了以色列两个犹太家庭的四次妊娠中出现2型GD（GD2）（其中一例母亲并非阿什肯纳兹人，而是来自西班牙裔犹太家庭），并回顾了文献中报道的阿什肯纳兹犹太家庭中的另外七例GD2病例。从表型上看，阿什肯纳兹犹太人中的GD2与其他种族群体的这种类型没有显著差异。对来自这两个以色列家庭的先证者进行基因分型分析表明，每个先证者都携带两个杂合的葡萄糖脑苷脂酶突变。我们无法解释为什么GD2在犹太阿什肯纳兹人群中如此罕见，但我们可以推测，某些阿什肯纳兹等位基因的纯合性可能是致命的，导致GD2的频率低于预期，并指出在阿什肯纳兹犹太人中从未描述过纯合L444P的病例。
