Quantitative calibration and use of DNA probes for investigating chromosome abnormalities in the Prader-Willi syndrome.
Quantitative calibration and use of DNA probes for investigating chromosome abnormalities in the Prader-Willi syndrome.
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定量校准和使用 DNA 探针研究普瑞德威利综合征的染色体异常。
DOI：
10.1002/ajmg.1320330110
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发表时间：
1989
期刊：
影响因子：
--
通讯作者：
Cantu,ES
中科院分区：
文献类型：
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作者：
Tantravahi,U;Nicholls,RD;Stroh,H;Ringer,S;Neve,RL;Kaplan,L;Wharton,R;Wurster-Hill,D;GrahamJr,JM;Cantu,ES
10个基因组DNA探针，亚克隆自一个噬菌体文库，该文库由流动排序染色体的DNA构建而成，现在已经被定位到15q11-15q13的位置。通过剂量印迹和密度测定，这些探针中的5个定位到Prader‐Willi综合征（PWS）患者的一个15染色体缺失的15q11.2-15q12片段，该患者具有明显的细胞学缺失。第六个探测器很可能指向同一区域。另外4个探针位于15q11-15q13段之外。几个15q11.2-15q12探针，以及一个与之同源的cDNA探针，已被用于检测来自8名患者的DNA，这些患者表现出广泛的PWS患者的临床表现。在所有3例细胞学15q1缺失的患者以及1例不平衡（Y;15）易位的患者中均观察到DNA缺失。1例PWS患者的DNA易位不平衡（5;15），短臂和近端长臂的反向复制为15，显示每个基因组探针至少有1个，可能有2个额外的拷贝。其他3例患者未发现细胞学缺失，未发现DNA缺失。因此，所描述的分子探针可以用于大多数PWS患者来分析与该综合征有关的近端15q区域。
Ten genomic DNA probes, subcloned from inserts derived from a phage library constructed from the DNA of flow‐sorted chromosomes, have now been mapped to locations within 15q11–15q13. By dosage blotting and densitometry, 5 of these probes map to the 15q11.2–15q12 segment missing in one 15 chromosome of a Prader‐Willi syndrome (PWS) patient with a prominent cytological deletion. A sixth probe most likely maps to the same region. The other 4 probes map outside of this segment but within 15q11–15q13. Several of the 15q11.2–15q12 probes, and a cDNA probe homologous to one, have been used to test the DNA from 8 patients exhibiting a wide range of the clinical manifestations expected for PWS patients. DNA deletion was observed in all 3 patients with cytological 15q1 deletions as well as in a patient with an unbalanced (Y;15) translocation. DNA from 1 PWS patient with an unbalanced (5; 15) translocation and an inverted duplication of the short arm and proximal long arm of 15 showed at least 1 and possibly 2 extra copies of each genomic probe tested. In the other 3 patients with no cytological deletions, no DNA deletions were found. Thus, the molecular probes described can be used in most PWS patients to analyze the region of proximal 15q implicated in this syndrome.