Landels E C, Green P M, Ellis I H, Fensom A H, Bobrow M
Paediatric Research Unit, United Medical School, Guy's Hospital, London.
J Med Genet. 1992 Aug;29(8):563-7. doi: 10.1136/jmg.29.8.563.
In the course of defining mutations causing Tay-Sachs disease (TSD) in non-Jewish patients and carriers from the British Isles, we identified a guanine to adenine change (also previously described) in the obligatory GT sequence of the donor splice site at the 5' end of intron 9 of the hexosaminidase alpha peptide gene. Of 24 unrelated mutant chromosomes from 20 non-Jewish subjects (15 TSD carriers, four TSD patients, and one TSD fetus), five had mutations common in the Ashkenazi Jewish community, and 10 had the intron 9 splice site mutation. This is an unexpected result considering the diverse origin of the population of the British Isles. This mutation was not found in 28 control UK subjects or 11 Jewish carriers of known TSD mutations. Before attempting detection of unknown mutations, non-Jewish TSD carriers from the British Isles should be screened for the intron 9 donor splice site mutation as well as those mutations which predominate in the Jewish community.
在确定来自不列颠群岛的非犹太裔患者和携带者中导致泰-萨克斯病（TSD）的突变过程中，我们在己糖胺酶α肽基因第9内含子5'端供体剪接位点的必需GT序列中发现了一个鸟嘌呤到腺嘌呤的变化（此前也有描述）。在来自20名非犹太裔个体（15名TSD携带者、4名TSD患者和1名TSD胎儿）的24条不相关突变染色体中，5条具有在德系犹太人群体中常见的突变，10条具有第9内含子剪接位点突变。考虑到不列颠群岛人群来源的多样性，这是一个意想不到的结果。在28名英国对照受试者或11名已知TSD突变的犹太携带者中未发现此突变。在尝试检测未知突变之前，应对来自不列颠群岛的非犹太裔TSD携带者进行第9内含子供体剪接位点突变以及在犹太人群体中占主导地位的那些突变的筛查。
