Overhauser J, McMahon J, Oberlender S, Carlin M E, Niebuhr E, Wasmuth J J, Lee-Chen J
Department of Biochemistry and Molecular Biology, Jefferson Institute of Molecular Medicine, Thomas Jefferson University, Philadelphia, PA 19107.
Am J Med Genet. 1990 Sep;37(1):83-6. doi: 10.1002/ajmg.1320370119.
The parental origin of de novo deletions leading to the cri-du-chat syndrome has been investigated. Since the cri-du-chat syndrome is correlated with deletions involving the short arm of chromosome 5 (5p), DNA fragments known to detect restriction fragment length polymorphisms (RFLPs) along 5p were used to establish whether the paternal or the maternal chromosome had suffered the deletion. In cases where only one parent was available, somatic cell hybrids were used in conjunction with RFLP analysis to determine the origin of the deleted chromosome. The deleted chromosome 5 was of paternal origin in 20/25 cases.
导致猫叫综合征的新生缺失的亲本来源已被研究。由于猫叫综合征与涉及5号染色体短臂（5p）的缺失相关，已知用于检测沿5p的限制性片段长度多态性（RFLP）的DNA片段被用来确定是父本染色体还是母本染色体发生了缺失。在只有一方亲本可用的情况下，体细胞杂种与RFLP分析结合使用，以确定缺失染色体的来源。在25例病例中有20例，缺失的5号染色体来源于父本。
