Avtor/Urednik		Brauch, Hiltrud; Kishida, Takeshi; Glavač, Damjan; Chen, Fan; Pausch, Friederike; Hoefler, Heinz; Latif, Farida; Lerman, Michael I; Zbar, Berton; Neumann, Hartmut PH
Naslov		Von Hippel-Lindau (VHL) disease with pheochromocytoma in the Black forest region of Germany: evidence for a founder effect
Tip		članek
Vir		Hum Genet
Vol. in št.		Letnik 95
Leto izdaje		1995
Obseg		str. 551-6
Jezik		eng
Abstrakt		We identified a germline missense mutation at nucleotide 505 (T to C) of the VHL tumor suppressor gene in 14, apparently unrelated, VHL type 2A families from the Black Forest region of Germany. This mutation was previously identified in two VHL 2A families living in Pennsylvania (USA). All affected individuals in the 16 families shared the same VHL haplotype indicating a founder effect. This missense mutation at codon 169 (Tyr to His) would probably cause an alternation in the structure of the putative VHL protein. The association of this distinct mutation with the pheochromocytoma phenotype in VHL may help to elucidate the genetic mechanism of carcinogenesis in this multi tumor cancer syndrome.
Deskriptorji		HIPPEL-LINDAU DISEASE PHEOCHROMOCYTOMA GERM-LINE MUTATION POLYMERASE CHAIN REACTION SEQUENCE ANALYSIS, DNA ELECTROPHORESIS, AGAR GEL