通过对22号染色体显微切割产生的神经纤维瘤病2型区域的新标志物。

New markers for the neurofibromatosis-2 region generated by microdissection of chromosome 22.

作者信息

Fiedler W, Claussen U, Lüdecke H J, Senger G, Horsthemke B, Geurts Van Kessel A, Goertzen W, Fahsold R

机构信息

Institut für Humangenetik, Universität Erlangen, Federal Republic of Germany.

出版信息

Genomics. 1991 Jul;10(3):786-91. doi: 10.1016/0888-7543(91)90464-p.

DOI:10.1016/0888-7543(91)90464-p

PMID:1909684

Abstract

To identify new DNA markers around the neurofibromatosis-2 gene on human chromosome 22, the critical region (22q12-q13.1) was microdissected and microcloned from GTG-banded metaphase chromosomes. Eighteen thousand recombinant clones were obtained. Twenty-seven of 55 clones tested (50%) detected single-copy DNA sequences. Nine of nine clones analyzed in detail were found to map to chromosome 22. Interestingly one clone (EAN04) is part of the leukemia inhibitory factor gene which has previously been mapped to 22q11.2-q13.1. Four clones (EAN01, EAN47, EAN57, and EAN68) detect DNA polymorphisms. These probes were used to compare constitutional and tumor genotypes of 41 patients with acoustic neurinoma. Loss of constitutional heterozygosity was identified in 17 of 31 informative cases (55%). From our data we conclude that the microdissection library is a valuable resource for physical and genetic mapping studies in neurofibromatosis-2.

摘要

为了鉴定人类22号染色体上神经纤维瘤病2型基因周围的新DNA标记，从GTG显带中期染色体上显微切割并微克隆了关键区域（22q12 - q13.1）。获得了18000个重组克隆。在检测的55个克隆中有27个（50%）检测到单拷贝DNA序列。详细分析的9个克隆中有9个被发现定位于22号染色体。有趣的是，一个克隆（EAN04）是白血病抑制因子基因的一部分，该基因先前已定位于22q11.2 - q13.1。4个克隆（EAN01、EAN47、EAN57和EAN68）检测到DNA多态性。这些探针被用于比较41例听神经瘤患者的正常组织和肿瘤基因型。在31例信息充分的病例中有17例（55%）发现了正常组织杂合性缺失。根据我们的数据，我们得出结论，显微切割文库是神经纤维瘤病2型物理和遗传图谱研究的宝贵资源。