An Alu-mediated partial SDHC deletion causes familial and sporadic paraganglioma
An Alu-mediated partial SDHC deletion causes familial and sporadic paraganglioma
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DOI：
10.1136/jmg.2004.019224
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发表时间：
2004-09-01
影响因子：
4
通讯作者：
Ferrell, RE
中科院分区：
文献类型：
--
作者：
Baysal, BE;Willett-Brozick, JE;Ferrell, RE
方法根据大学机构审查委员会委员会批准的研究方案，从美国两家耳鼻喉科诊所（宾夕法尼亚州匹兹堡的匹兹堡大学医学院和加利福尼亚州洛杉矶的豪斯耳朵研究所）确定了家庭和孤立病例。使用标准技术 2 进行 DNA 分离、简单串联重复多态性的基因分型、PCR 扩增和测序，并且在用 32 P 标记一种寡核苷酸引物后，在 10% 甘油和 5% DMSO 存在下扩增所有简单串联重复多态性，并在 6% 聚丙烯酰胺凝胶上进行分析。多重家族的 DNA 直接从白细胞或转化的类淋巴母细胞系中分离。如前所述，从脸颊拭子中分离出散发病例的 DNA。 11
METHODSThe family and the isolated cases were ascertained from two US otolaryngology clinics (University of Pittsburgh School of Medicine, Pittsburgh, PA and House Ear Institute, Los Angeles, CA) under research protocols approved by the University Institutional Review Board committee. DNA isolation, genotyping of simple tandem repeat polymorphisms, PCR amplification and sequencing were performed using standard techniques 2 and all simple tandem repeat polymorphisms were amplified in the presence of 10% glycerol and 5% DMSO after labelling one oligonucleotide primer with 32 P and analysed on a 6% polyacrylamide gel. DNA from the multiplex family was isolated either directly from white blood cells or from transformed lymphoblastoid cell lines. DNA of the sporadic cases was isolated from cheek swabs as described earlier. 11