LRRK2 G2019S founder haplotype in the Chinese population.
The G2019S mutation in the LRRK2 (leucine-rich repeat kinase) gene appears very rarely in the Chinese population. Among Chinese subjects who were non-G2019S carriers, we demonstrated the frequency of the LRRK2 G2019S founder haplotype (T-254-A-G-A-154) in Parkinson's disease and controls to be 33% and 30%. This rate is similar to the frequency in European noncarriers, indirectly supporting the association of this haplotype with G2019S carriers. The haplotype is likely to be more ancient than the G2019S mutation because it is also found in a population with a very low carrier rate.
Tan
Eng-King
EK
Singapore General Hospital, Singapore. gnrtek@sgh.com.sg
Skipper
Lisa
L
Tan
Louis
L
Liu
Jian-Jun
JJ
D044466:Asian People / Q000208:ethnology; D005998:Glycine / Q000235:genetics*; D006239:Haplotypes; D006801:Humans; D000071158:Leucine-Rich Repeat Serine-Threonine Protein Kinase-2; D010300:Parkinson Disease / Q000453:epidemiology / Q000235:genetics*; D017346:Protein Serine-Threonine Kinases / Q000235:genetics*; D012694:Serine / Q000235:genetics*
D012694:Serine; C495280:LRRK2 protein, human; D000071158:Leucine-Rich Repeat Serine-Threonine Protein Kinase-2; D017346:Protein Serine-Threonine Kinases; D005998:Glycine