将27个DNA标记定位于患有迪格奥尔格综合征患者中缺失且在der22综合征中重复的人类染色体22q11 - pter区域。
Localization of 27 DNA markers to the region of human chromosome 22q11-pter deleted in patients with the DiGeorge syndrome and duplicated in the der22 syndrome.
作者信息
Carey A H, Roach S, Williamson R, Dumanski J P, Nordenskjold M, Collins V P, Rouleau G, Blin N, Jalbert P, Scambler P J
机构信息
Department of Biochemistry and Molecular Genetics, St. Mary's Hospital Medical School, London, United Kingdom.
出版信息
Genomics. 1990 Jul;7(3):299-306. doi: 10.1016/0888-7543(90)90161-m.
DiGeorge syndrome is a human developmental field defect with the pathological features of an abnormality of embryogenesis at 4 to 6 weeks of gestation. Cytogenetic analyses of patients have revealed a number of instances of monosomy 22q11-pter in this condition. We have analyzed 52 DNA markers that map to 22q11-pter and have found 27 that are deleted in DiGeorge syndrome patients with known monosomy for part of this region and that are duplicated in patients with the der22 syndrome. The set of clones mapping to the DiGeorge region was further assigned to a proximal or a distal location within the deletion.
迪乔治综合征是一种人类发育领域的缺陷，其病理特征为妊娠4至6周时胚胎发生异常。对患者的细胞遗传学分析显示，在这种情况下有许多22q11-pter单体的实例。我们分析了52个定位于22q11-pter的DNA标记，发现其中27个在已知该区域部分单体的迪乔治综合征患者中缺失，而在der22综合征患者中则重复出现。定位于迪乔治区域的一组克隆进一步被定位到缺失区域内的近端或远端位置。
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