人类酪氨酸羟化酶基因（TH）5'区域中的一种新的高度多态性DNA限制性酶切位点标记，可检测人类胚胎性横纹肌肉瘤中的杂合性缺失。
A new highly polymorphic DNA restriction site marker in the 5' region of the human tyrosine hydroxylase gene (TH) detecting loss of heterozygosity in human embryonal rhabdomyosarcoma.
作者信息
Besnard-Guérin C, Cavenee W K, Newsham I
机构信息
Ludwig Institute for Cancer Research, University of California-San Diego, School of Medicine, La Jolla 92093-0660.
出版信息
Hum Genet. 1994 Mar;93(3):349-50. doi: 10.1007/BF00212038.
We have isolated a new marker (cos11-5TH) that detects an MspI restriction fragment length polymorphism in the 5' region of the human tyrosine hydroxylase gene (TH) on chromosome band 11p15.5. This region of human chromosome 11 contains several important loci for disease phenotypes including Beckwith-Wiedemann syndrome (BWS), Wilms' tumor, and embryonal rhabdomyosarcoma. Thus, identification of new polymorphic markers in this region are important for future gene mapping and linkage analyses. To better define the region of 11p15.5 deleted in embryonal rhabdomyosarcoma, this new marker was used to investigate allelic losses in embryonal rhabdomyosarcoma tumors.
我们分离出了一种新的标记物（cos11-5TH），它能检测位于11号染色体11p15.5带区的人类酪氨酸羟化酶基因（TH）5'区域的MspI限制性片段长度多态性。人类11号染色体的这个区域包含几个与疾病表型相关的重要基因座，包括贝克威思-维德曼综合征（BWS）、肾母细胞瘤和胚胎性横纹肌肉瘤。因此，在该区域鉴定新的多态性标记物对于未来的基因定位和连锁分析很重要。为了更好地界定胚胎性横纹肌肉瘤中11p15.5缺失的区域，我们使用这个新标记物来研究胚胎性横纹肌肉瘤肿瘤中的等位基因缺失情况。
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