Restriction fragment length polymorphisms within proximal 15q and their use in molecular cytogenetics and the Prader-Willi syndrome.
Restriction fragment length polymorphisms within proximal 15q and their use in molecular cytogenetics and the Prader-Willi syndrome.
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DOI：
10.1002/ajmg.1320330109
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发表时间：
1989-05
期刊：
影响因子：
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通讯作者：
R. Nicholls;J. Knoll;K. Glatt;J. Hersh;Thomas D. Brewster;J. Graham;D. Wurster‐Hill;R. Wharton;S. Latt
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文献类型：
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作者：
R. Nicholls;J. Knoll;K. Glatt;J. Hersh;Thomas D. Brewster;J. Graham;D. Wurster‐Hill;R. Wharton;S. Latt
详细描述了 6 个 DNA 探针（D15S9-13、D15S18）的限制性片段长度多态性 (RFLP)，这些探针定位于人类 15 号染色体的近端长臂 (15q11-15q13：本报告和 Tantravahi 等人，Am. J. Med. Genet. 33:78-87。通过识别基因座的探针检测到多个 RFLP D15S13 和这些 RFLP 通过基因组作图显示是由附近 1.8 KB 的 DNA 插入或缺失引起的。这组由近端 15q 探针检测到的 RFLP 可用于研究 Prader-Willi 综合征 (PWS) 和具有多余 inv dup(15) 染色体的智力迟钝个体。通过 RFLP 分析，涉及 PWS 病因的 4 个家庭（15q11.2-15q12）中的每一个都提供了信息。所研究的两个 PWS 缺失是从父亲提供的 15 号染色体遗传而来的。简化染色体非整倍体中拷贝数的分子测定，例如对患有 PWS 和缺失的个体、具有 inv dup(15) 的患者以及一名涉及 15 号染色体的更复杂重排的患者的分析。我们的研究证明了 DNA 探针在该染色体区域的分子细胞遗传学研究中的应用以及诊断分子标记的开发以帮助 PWS 的早期临床诊断。
Restriction fragment length polymorphisms (RFLPs) are described in detail for 6 DNA probes (D15S9-13, D15S18) that localize to the proximal long arm of human chromosome 15 (15q11-15q13: this report and Tantravahi et al., Am. J. Med. Genet. 33:78-87. Multiple RFLPs are detected by the probe that identifies locus D15S13, and these RFLPs are shown by genomic mapping to result from a nearby insertion or deletion of 1.8 kilobases (kb) of DNA. This set of RFLPs detected by proximal 15q probes can be used for studies on the Prader-Willi syndrome (PWS) and on mentally retarded individuals with a supernumerary inv dup(15) chromosome. Five of the polymorphic loci (D15S9-13) map to the region implicated in the cause of the PWS (15q11.2-15q12). Each of 4 families tested with these probes, as well as an additional "PWS-like" patient, was informative by RFLP analysis. The two PWS deletions studied, which occurred de novo, were inherited from the chromosome 15 provided by the father. By contrast, the 2 inv dup(15) chromosomes analyzed were of maternal origin. The use of RFLPs can also simplify the molecular determination of copy number in chromosomal aneuploidy, as exemplified by analysis of individuals with the PWS and a deletion, patients with an inv dup(15), and one patient with a more complex rearrangement involving chromosome 15. Our studies demonstrate the application of DNA probes for both molecular cytogenetic studies on this chromosome region and the development of diagnostic molecular markers to aid early clinical diagnosis of the PWS.