Kaufman M, Grinshpun-Cohen J, Karpati M, Peleg L, Goldman B, Akstein E, Adam A, Navon R
Department of Human Genetics, Sackler School of Medicine, Tel Aviv University, Israel.
Hum Mutat. 1997;10(4):295-300. doi: 10.1002/(SICI)1098-1004(1997)10:4<295::AID-HUMU5>3.0.CO;2-G.
Moroccan Jewry (N>750,000) is the only non-Ashkenazi Jewish community in which Tay-Sachs disease (TSD) is not extremely rare. Previous studies among Moroccan Jewish TSD families identified three HEXA mutations. In this study, extended to enzyme-defined and new obilgate TSD carriers, we found four additional mutations. One of them is a novel, IVS5-2(A-->G) substitution, resulting in exon skipping, and it was found only among enzyme-defined carriers. The seven HEXA identified mutations among Moroccan Jews are: deltaF(304/305), R170Q, IVS-2(A-->G), Y180X, E482K, 1278+TATC, and IVS12+1(G-->C). Their respective distribution among 51 unrelated enzyme-defined and obligate carriers is 22:19:6:1:1:1:1. The mutation(s) remain unknown in only three enzyme-defined carriers. Five of the seven Moroccan mutations, including the three most common ones, were not found among Ashkenazi Jews. Compared with the much larger and relatively homogeneous Ashkenazi population, the finding among Moroccan Jews probably reflects their much longer history.
摩洛哥犹太人（N>750,000）是唯一一种非阿什肯纳兹犹太人群体，其中泰-萨克斯病（TSD）并非极其罕见。先前对摩洛哥犹太TSD家族的研究发现了三种HEXA突变。在这项扩展到酶定义的和新的确诊TSD携带者的研究中，我们又发现了四种突变。其中一种是新的IVS5-2（A→G）替代，导致外显子跳跃，并且仅在酶定义的携带者中发现。在摩洛哥犹太人中鉴定出的七种HEXA突变是：deltaF（304/305）、R170Q、IVS-2（A→G）、Y180X、E482K、1278+TATC和IVS12+1（G→C）。它们在51名不相关的酶定义携带者和确诊携带者中的各自分布为22:19:6:1:1:1:1。仅在三名酶定义携带者中突变情况未知。七种摩洛哥突变中的五种，包括三种最常见的突变，在阿什肯纳兹犹太人中未被发现。与规模大得多且相对同质的阿什肯纳兹人群相比，摩洛哥犹太人中的这一发现可能反映了他们更长的历史。
