De Gasperi R, Gama Sosa M A, Grebner E E, Mansfield D, Battistini S, Sartorato E L, Raghavan S S, Davis J G, Kolodny E H
Department of Neurology, New York University School of Medicine, New York 10016, USA.
Biochem Mol Med. 1995 Oct;56(1):31-6. doi: 10.1006/bmme.1995.1053.
Thermolabile forms of the lysosomal enzyme beta-hexosaminidase B (Hex B), likely to result from different genetic defects, have been described. Ten individuals in five generations of a family of Oriental Jewish ancestry were identified biochemically as carriers of a thermolabile Hex B form. The beta-chain thermolability was found to be associated with the presence of a G --> A transition at nucleotide 1627 of the HEX B gene causing the substitution of Ala543 with a threonine. Oriental Jew whose Hex B was heat labile. Since thermolabile Hex B has been shown to occur more frequently among Jews of Oriental origin, the Ala543 --> Thr mutation may be the common mutation associated with beta-chain thermolability in this ethnic group.
已描述了溶酶体酶β-己糖胺酶B（Hex B）的热不稳定形式，其可能由不同的基因缺陷导致。在一个东方犹太裔家族的五代中有十个人经生化鉴定为热不稳定Hex B形式的携带者。发现β链热不稳定性与HEX B基因第1627位核苷酸处的G→A转换有关，该转换导致丙氨酸543被苏氨酸取代。Hex B热不稳定的东方犹太人。由于热不稳定Hex B在东方裔犹太人中更频繁出现，丙氨酸543→苏氨酸突变可能是该族群中与β链热不稳定性相关的常见突变。
