患有X染色体缺失的男性中的单胺氧化酶缺乏症。

Monoamine oxidase deficiency in males with an X chromosome deletion.

作者信息

Sims K B, de la Chapelle A, Norio R, Sankila E M, Hsu Y P, Rinehart W B, Corey T J, Ozelius L, Powell J F, Bruns G

机构信息

Molecular Neurogenetics Division, E. K. Shriver Center, Waltham, Massachusetts 02254.

出版信息

Neuron. 1989 Jan;2(1):1069-76. doi: 10.1016/0896-6273(89)90231-6.

DOI:10.1016/0896-6273(89)90231-6

PMID:2483108

Abstract

Mapping of the human MAOA gene to chromosomal region Xp21-p11 prompted our study of two affected males in a family previously reported to have Norrie disease resulting from a submicroscopic deletion in this chromosomal region. In this investigation we demonstrate in these cousins deletion of the MAOA gene, undetectable levels of MAO-A and MAO-B activities in their fibroblasts and platelets, respectively, loss of mRNA for MAO-A in fibroblasts, and substantial alterations in urinary catecholamine metabolites. The present study documents that a marked deficiency of MAO activity is compatible with life and that genes for MAO-A and MAO-B are near each other in this Xp chromosomal region. Some of the clinical features of these MAO deletion patients may help to identify X-linked MAO deficiency diseases in humans.

摘要

人类单胺氧化酶A（MAOA）基因定位于染色体区域Xp21 - p11，促使我们对一个家族中的两名患病男性进行研究，该家族先前报告患有诺里病，病因是该染色体区域的亚显微缺失。在本研究中，我们证实这两名表亲中MAOA基因缺失，其成纤维细胞和血小板中分别检测不到单胺氧化酶A（MAO - A）和单胺氧化酶B（MAO - B）的活性，成纤维细胞中MAO - A的信使核糖核酸（mRNA）缺失，并且尿儿茶酚胺代谢产物有显著改变。本研究证明，MAO活性的显著缺乏与生命相容，且MAO - A和MAO - B基因在这个Xp染色体区域彼此相邻。这些MAO缺失患者的一些临床特征可能有助于识别人类X连锁MAO缺乏疾病。