人类腺苷酸琥珀酸裂解酶（ADSL）基因定位于22号染色体q13.1→q13.2区域。
Mapping of the human adenylosuccinate lyase (ADSL) gene to chromosome 22q13.1-->q13.2.
作者信息
Fon E A, Demczuk S, Delattre O, Thomas G, Rouleau G A
机构信息
Montreal General Hospital Research Institute, McGill University, Québec, Canada.
出版信息
Cytogenet Cell Genet. 1993;64(3-4):201-3. doi: 10.1159/000133575.
PMID:8404037
Abstract
Adenylosuccinate lyase (ADSL) is an essential enzyme involved in de novo purine biosynthesis. A deficiency in ADSL in humans has been shown to predispose to a neurodevelopmental syndrome with autistic features. Using both a somatic cell hybrid mapping panel and fluorescence in situ hybridization, we have precisely localized the human ADSL gene to chromosome 22q13.1-->q13.2.
摘要
腺苷酸琥珀酸裂解酶（ADSL）是从头嘌呤生物合成中所涉及的一种必需酶。已表明人类ADSL缺乏易导致具有自闭症特征的神经发育综合征。利用体细胞杂种定位板和荧光原位杂交技术，我们已将人类ADSL基因精确定位于22号染色体的q13.1→q13.2区域。
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