[Germline LKB1 gene mutation screening in 4 Chinese Peutz-Jeghers syndrome pedigrees].
OBJECTIVE
To evaluate the frequency and nature of LKB1 gene germline mutations in 4 large Chinese Peutz-Jeghers syndrome pedigrees.


METHODS
Four Chinese Peutz-Jeghers syndrome pedigrees were investigated. Two patients and 1 normal adult from each pedigree were selected, and genomic DNA from peripheral blood was extracted. The 9 exons of LKB1 gene were amplified by PCR. The products were tested by SSCP and abnormally shifted bands were sequenced. If there was no positive finding in any pedigree, the entire exons were sequenced.


RESULTS
The same 842 C deletion of LKB1 gene frame-shift mutations was found in 2 pedigrees, which resulted in truncated protein. No exon variant was found in the left 2 pedigrees.


CONCLUSIONS
LKB1 gene germline mutation is an important molecular pathogen of Peutz-Jeghers syndrome. 842 C deletion is a possible mutation hotspot and might be a common-ancestor mutation characteristic of Chinese.
Wang
Z
Z
Department of Surgery, First Hospital, Beijing Medical University, Beijing 100034, China.
Yan
Z
Z
Bi
G
G
Xu
W
W
Huang
T
T
D000091162:AMP-Activated Protein Kinase Kinases; D000328:Adult; D044466:Asian People / Q000235:genetics*; D005260:Female; D016368:Frameshift Mutation; D017353:Gene Deletion; D018095:Germ-Line Mutation; D006801:Humans; D008297:Male; D010375:Pedigree; D010580:Peutz-Jeghers Syndrome / Q000235:genetics*; D017346:Protein Serine-Threonine Kinases / Q000235:genetics*
D017346:Protein Serine-Threonine Kinases; C109790:STK11 protein, human; D000091162:AMP-Activated Protein Kinase Kinases