Wadey R, Daw S, Wickremasinghe A, Roberts C, Wilson D, Goodship J, Burn J, Halford S, Scambler P J
Molecular Medicine Unit, Institute of Child Health, London, UK.
J Med Genet. 1993 Oct;30(10):818-21. doi: 10.1136/jmg.30.10.818.
End fragment cloning from a YAC at the D22S134 locus allowed the isolation of a new probe HD7k. This marker detects hemizygosity in two patients previously shown to be dizygous for D22S134. This positions the distal deletion breakpoint in these patients to the sequences within the YAC, and confirms that HD7k is proximal to D22S134. In a search for coding sequences within the region commonly deleted in DGS we have identified a conserved sequence at D22S134. Although no cDNAs have yet been isolated, genomic sequencing shows a short open reading frame with weak similarity to collagen proteins.
从位于D22S134位点的一个酵母人工染色体（YAC）进行末端片段克隆，使得能够分离出一种新的探针HD7k。该标记物在两名先前显示为D22S134双合子的患者中检测到半合子状态。这将这些患者中的远端缺失断点定位到YAC内的序列，并证实HD7k位于D22S134的近端。在寻找DiGeorge综合征（DGS）中常见缺失区域内的编码序列时，我们在D22S134处鉴定出一个保守序列。尽管尚未分离到任何cDNA，但基因组测序显示出一个与胶原蛋白具有微弱相似性的短开放阅读框。
