Carey A H, Claussen U, Lüdecke H J, Horsthemke B, Ellis D, Oakey H, Wilson D, Burn J, Williamson R, Scambler P J
Department of Biochemistry and Molecular Genetics, St. Mary's Hospital Medical School, Imperial College London, UK.
Mamm Genome. 1992;3(2):101-5. doi: 10.1007/BF00431253.
DiGeorge syndrome in humans is characterized by immunodeficiency, heart defects, mental retardation and facial dysmorphism; cytogenetic analysis has shown that deletions at 22q11 occur in approximately 25% of cases. To generate DNA markers from this region, we have microdissected and microcloned band q11 of human Chromosome (Chr) 22. Nineteen thousand clones were obtained from material dissected from 20 chromosome fragments. Seventeen of 61 clones analyzed (28%) were repetitive, 27 (44%) gave no signal, and 17 (28%) detected single copy sequences of which ten mapped to Chr 22. Two of these were found to be deleted in patients with DiGeorge syndrome and either monosomy for 22q11-pter or visible interstitial deletions of 22q11. These two markers are also hemizygous in patients with no visible chromosomal abnormality, demonstrating that submicroscopic deletions are common in DiGeorge syndrome patients.
人类的迪乔治综合征的特征为免疫缺陷、心脏缺陷、智力迟钝和面部畸形；细胞遗传学分析表明，约25%的病例存在22q11缺失。为了从该区域生成DNA标记，我们对人类22号染色体（Chr）的q11带进行了显微切割和微克隆。从20个染色体片段切割的材料中获得了19000个克隆。分析的61个克隆中有17个（28%）是重复的，27个（44%）没有信号，17个（28%）检测到单拷贝序列，其中10个定位于22号染色体。发现其中两个在迪乔治综合征患者中缺失，这些患者要么是22q11 - pter单体，要么有可见的22q11间质缺失。这两个标记在没有可见染色体异常的患者中也是半合子，表明亚显微缺失在迪乔治综合征患者中很常见。
