CHARACTERIZATION OF THE SUPERNUMERARY CHROMOSOME IN CAT EYE SYNDROME
CHARACTERIZATION OF THE SUPERNUMERARY CHROMOSOME IN CAT EYE SYNDROME
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DOI：
10.1126/science.3961499
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发表时间：
1986-05-02
期刊：
影响因子：
56.9
通讯作者：
WHITE, BN
中科院分区：
文献类型：
--
作者：
MCDERMID, HE;DUNCAN, AMV;WHITE, BN
大多数患有猫眼综合征（CES）的个体具有额外的双卫星染色体，根据细胞遗传学证据，已报道其起源于13号或22号染色体。为了解决这个问题，单拷贝DNA探针，D22 S9，分离和定位到22 q11的中期染色体原位杂交。通过Southern印迹和放射自显影的光密度分析，确定CES患者中该序列的拷贝数。在额外染色体的患者中，发现了四个拷贝，而在一个22号染色体部分重复的患者中，有三个拷贝。因此，该综合征是由22 q11的DNA序列的三个或四个拷贝的存在引起的;没有证据表明来自其他染色体的序列也参与其中。这项工作演示了如何DNA序列剂量分析可用于研究遗传性疾病，不容易服从标准的细胞遗传学分析。
Most individuals with cat eye syndrome (CES) have a supernumerary bisatellited chromosome which, on the basis of cytogenetic evidence, has been reported to originate from either chromosome 13 or 22. To resolve this question, a single-copy DNA probe, D22S9, was isolated and localized to 22q11 by in situ hybridization to metaphase chromosomes. The number of copies of this sequence was determined in CES patients by means of Southern blots and densitometry analysis of autoradiographs. In patients with the supernumerary chromosome, four copies were found, whereas in one patient with a duplication of part of chromosome 22, there were three copies. Therefore, the syndrome results from the presence of either three or four copies of DNA sequences from 22q11; there is no evidence that sequences from other chromosomes are involved. This work demonstrates how DNA sequence dosage analysis can be used to study genetic disorders that are not readily amenable to standard cytogenetic analysis.