[Germ line mutations in Chinese kindreds with von Hippel-Lindau syndrome].
OBJECTIVE
To investigate the germ line mutations in Chinese kindreds with von Hippel-Lindau syndrome (VHL) and to explore its role in clinical management.


METHODS
The clinical and familial data were reviewed from 6 Chinese kindreds with VHL, of which the VHL germ line mutation in 21 members was analysed by polymerase chain reaction and sequencing analysis.


RESULTS
Among 6 kindreds, there were 5 type I and 1 type IIA. The germ line mutations consisted of 4 missense mutations, 1 nonsense mutation and 1 deletion, of which 4 mutations existed in exon 1, 1 in exon 2 and 1 in exon 3. Of the 21 members who volunteered for genetic analysis, 14 members presented the VHL germ line mutations, including 10 affected patients, 1 suspected patients and 3 carriers.


CONCLUSIONS
The germ line mutations in Chinese kindreds with VHL could be dominant in exon 1. It plays an important role in early detection of asymptomatic patients and the carriers, in the diagnosis of VHL and the clinical screening for members in the VHL families.
Zhang
Jin
J
Department of Urology, Renji Hospital, Medical College, Shanghai Jiaotong University, Shanghai, 200127 PR China.
Huang
Yi-ran
YR
Pan
Jia-hua
JH
Liu
Dong-ming
DM
Zhou
Li-xin
LX
Xue
Wei
W
Chen
Qi
Q
D044466:Asian People / Q000235:genetics; D001483:Base Sequence; D002681:China; D018389:Codon, Nonsense / Q000235:genetics; D004252:DNA Mutational Analysis; D005091:Exons / Q000235:genetics; D005192:Family Health; D005260:Female; D017353:Gene Deletion; D018095:Germ-Line Mutation / Q000235:genetics*; D006801:Humans; D008297:Male; D008875:Middle Aged; D020125:Mutation, Missense / Q000235:genetics; D010375:Pedigree; D016133:Polymerase Chain Reaction; D051794:Von Hippel-Lindau Tumor Suppressor Protein / Q000235:genetics*; D006623:von Hippel-Lindau Disease / Q000208:ethnology / Q000235:genetics*
D018389:Codon, Nonsense; D051794:Von Hippel-Lindau Tumor Suppressor Protein; C497446:VHL protein, human