Johnson P H, Richards A J, Lloyd J C, Pope F M, Hopkinson D A
M.R.C. Human Biochemical Genetics Unit, Galton Laboratory, London.
Hum Mutat. 1995;6(4):336-42. doi: 10.1002/humu.1380060408.
cDNA encoding the C-terminal domain (nt2283 to 3714) of type III collagen was amplified by PCR in five overlapping products and examined for mutations in 13 patients with Ehlers-Danlos syndrome type IV (EDS IV) with uncharacterised lesions and in five control patients with known single base mutations. Six different point mutations were detected by denaturing gradient gel electrophoresis (DGGE), in addition to those in the known controls. Four of seven patients who had no point mutations in this region were shown to lack complete exons from their amplified cDNA. Mutations were detected in all patients with typical or acrogeric EDS IV, but only in one of four individuals with the atypical form of the disease.
通过聚合酶链反应（PCR）扩增编码III型胶原C末端结构域（核苷酸2283至3714）的互补DNA（cDNA），得到五个重叠产物，并对13例患有未明确病变的IV型埃勒斯-当洛综合征（EDS IV）患者以及5例已知单碱基突变的对照患者进行了突变检测。除了已知对照中的突变外，通过变性梯度凝胶电泳（DGGE）检测到六个不同的点突变。在该区域没有点突变的七名患者中，有四名患者扩增的cDNA显示缺少完整的外显子。在所有典型或肢端早老型EDS IV患者中均检测到突变，但在四名非典型形式疾病患者中仅在一名患者中检测到突变。
