腺苷脱氨酶（ADA）和免疫性血小板减少症（ITP）在人类20号染色体上的区域定位：一项关于X/20易位的细胞遗传学和体细胞研究
Regional mapping of ADA and ITP on human chromosome 20: cytogenetic and somatic cell studies in an X/20 translocation.
作者信息
Mohandas T, Sparkes R S, Passage M B, Sparkes M C, Miles J H, Kaback M M
出版信息
Cytogenet Cell Genet. 1980;26(1):28-35. doi: 10.1159/000131418.
An apparently balanced de novo translocation between chromosomes X and 20, 46,X,t(X;20)(Xp20q;Xq20p), was identified in a severely retarded 13-year-old female with macrocephaly, bilateral overfolded pinnae, elbow contractures, clinodactyly, and seizures. BudR-pulse studies show the normal X chromosome to be late replicating in both lymphocytes (50 cells) and skin fibroblasts (25 cells). An HPRT deficient Chinese hamster line was fused with lymphocytes from the patient, and hybrid lines were derived in HAT medium. Cytogenetic and biochemical analyses of these hybrid lines show that the locus for adenosine deaminase is in the cen leads to qter region and that the locus for inosine triphosphatase is in the pter leads to cen region of human chromosome 20.
在一名13岁严重智力发育迟缓的女性患者中，发现了一种明显平衡的X染色体与20号染色体之间的新生易位，核型为46,X,t(X;20)(Xp20q;Xq20p)。该患者有巨头畸形、双侧耳廓过度折叠、肘部挛缩、手指弯曲和癫痫发作。BudR脉冲研究表明，正常的X染色体在淋巴细胞（50个细胞）和皮肤成纤维细胞（25个细胞）中均为晚复制。将一株次黄嘌呤磷酸核糖转移酶（HPRT）缺陷的中国仓鼠细胞系与该患者的淋巴细胞融合，并在HAT培养基中获得杂交细胞系。对这些杂交细胞系的细胞遗传学和生化分析表明，腺苷脱氨酶基因座位于人类20号染色体的着丝粒至长臂末端区域，而肌苷三磷酸酶基因座位于该染色体的短臂末端至着丝粒区域。
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