Long polymerase chain reaction in detection of germline deletions in the von Hippel-Lindau tumour suppressor gene

被引：18

作者：

Cybulski, C

Krzystolik, K

Maher, ER

Richard, S

Kurzawski, G

Gronwald, J

Lubinski, J

机构：

[1] Pomeranian Med Univ, Dept Genet & Pathol, Szczecin, Poland

[2] Pomeranian Med Univ, Dept Pediat 1, Szczecin, Poland

[3] Univ Cambridge, Sch Med, Dept Pathol, Cambridge, England

[4] St Anne Hosp, Paris, France

[5] Pomeranian Med Univ, Dept Ophthalmol 1, Szczecin, Poland

来源：

HUMAN GENETICS | 1999年 / 105卷 / 04期

关键词：

D O I：

10.1007/s004390051110

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Experimental conditions for detection of germ line deletions of the von Hippel-Lindau (VHL) gene by means of long polymerase chain reaction have been established. Primers were designed to analyse the VHL gene in three overlapping fragments: 12.5 kb in length containing promoter and exons 1 and 2; 8.7kb in length containing exons 2 and 3; and 16kb in length containing exons 2 and 3 and the 3' untranslated region. Using the described procedure, it was possible to detect large deletions in four of five cases with such mutations previously detected by Southern blotting and in 5 of 11 unrelated Polish VHL patients in whom constitutional VHL gene mutations were not found by sequencing.

引用

页码：333 / 336

页数：4

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