Kovács L
I. Detská klinika Detskej fakultnej nemocnice, Bratislava.
Cas Lek Cesk. 1995 Oct 18;134(20):661-5.
There is an increasing interest on one of the smallest human chromosomes as it is shown by the First International Symposium on the Human Chromosome 20 and by the genetic map prepared by EUROGEN. The conserved part of the long arm of human chromosome 20 is synthenic with the distal part of the mouse chromosome 2 allowing for some analogies between them. Human chromosome 20 contains several important genes for the human pathology. Mutations of one of them, the vasopressin-neurophysin II gene, are responsible for hereditary neurohypophyseal diabetes insipidus. Severe combined immunodeficiency due to adenosin deaminase deficiency is the first human disorder successfully treated by somatic gene therapy. Spongiform encephalopathies are related to mutation and/or polymorphisms of the PRNP amyloid gene. One form of benign familiar neonatal convulsions is mapped to a specific locus on chromosome 20. In some families, maturity onset diabetes of the young (MODY) is caused by alterations of a hypothetical gene closely linked to the ADA locus. Allegile syndrome is often associated with deletions and microdeletions of the short arm of the chromosome. Finally, deletions of the long arm of the chromosome is a frequent finding in several hematologic malignities, specifically in myeloproliferative disorders and myelodysplastic syndromes.
人们对人类最小的染色体之一的兴趣与日俱增，这一点在第一届人类20号染色体国际研讨会上以及欧洲人类遗传学委员会绘制的遗传图谱中都有所体现。人类20号染色体长臂的保守部分与小鼠2号染色体的远端部分是同线的，这使得它们之间存在一些相似之处。人类20号染色体包含一些对人类病理学很重要的基因。其中之一，抗利尿激素 - 神经垂体素II基因的突变，是遗传性垂体性尿崩症的病因。腺苷脱氨酶缺乏导致的重症联合免疫缺陷是首例通过体细胞基因治疗成功治愈的人类疾病。海绵状脑病与PRNP淀粉样蛋白基因突变和/或多态性有关。一种良性家族性新生儿惊厥形式定位于20号染色体上的一个特定位点。在一些家族中，青年发病的成年型糖尿病（MODY）是由一个与ADA位点紧密连锁的假设基因的改变引起的。过敏综合征常与该染色体短臂的缺失和微缺失有关。最后，该染色体长臂的缺失在几种血液系统恶性肿瘤中很常见，特别是在骨髓增殖性疾病和骨髓增生异常综合征中。
