通过对一名20q间质缺失患者的研究，将腺苷脱氨酶基因位点重新定位到20q13×11染色体。
New assignment of the adenosine deaminase gene locus to chromosome 20q13 X 11 by study of a patient with interstitial deletion 20q.
作者信息
Petersen M B, Tranebjaerg L, Tommerup N, Nygaard P, Edwards H
出版信息
J Med Genet. 1987 Feb;24(2):93-6. doi: 10.1136/jmg.24.2.93.
Abstract
A karyotype 46,XY,del(20)(q11 X 23q13 X 11) was found in a three year old boy with mental and growth retardation, low set ears, broad nasal bridge, and macrostomia. Adenosine deaminase (ADA) activity was reduced by about 50%, assigning the gene locus to the deleted segment. A review of the previously reported regional assignments suggests that the ADA gene is in the region of band 20q13 X 11.
摘要
在一名患有智力和生长发育迟缓、耳朵低位、鼻梁宽和大口畸形的三岁男孩中发现了核型为46,XY,del(20)(q11X23q13X11)。腺苷脱氨酶（ADA）活性降低了约50%，将该基因位点定位到缺失片段。对先前报道的区域定位的回顾表明，ADA基因位于20q13X11带区。
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