ATXN8OS,ATXN10,PPP2R2B Gene Mutation Analysis And Nucleotide Repeat Numer Extent Of Normal People

ObjectiveUndertake the mutation analysis of ATXN8OS,ATXN10,PPP2R2Bgene; Identify the extent of ATXN8OS,ATXN10,PPP2R2B repeat numberin normal people; Establish the diagnostic platform for fragmentnucleotide repeat detection by Southern blot.MethodsWe analyze ATXN80S,ATXN10,PPP2R2B nucleotide repeat numberand homozygous detection for 144 SCA cases and 270 normal control byPCR,8ï¼…denaturing polyacrylamide gel and capillary electrophoresismethods.Then we undertake Southern Blot for ATXN10 gene which ishomozygous from 14 SCA cases by capillary electrophoresis.ResultsWe haven't found obviously abnormal changes in ATXN8OS,ATXN10,PPP2R2B mutation analysis for 144 SCA cases by PCR,8ï¼…denaturing polyacrylamide gel and capillary electrophoresis methods. It isdiscovered by capillary electrophoresis in 144 SCA cases and 270 normalcontrol:â‘ 132 SCA cases complete the detection for ATXN8OSanalysis,including 35 cases of homozygosis(26.5ï¼…) which contain17-47times(24 in average) CTA/CTG repeat number; In normal control261 cases complete the detection, including 70 cases of homozygosis(26.8ï¼…) which contain 12-43 times (24 in average) CTA/CTG repeatnumber;â‘¡136 SCA cases complete the detection for ATXN10analysis,including 31 cases of homozygosis (22.8ï¼…) which contain 13-27times(22 in average); In normal control 264 cases complete the detection,including 70 cases of homozygosis (26.5ï¼…) which contain 17-40 times(22 in average) ATTCT repeat number.â‘¢139 SCA cases complete thedetection for PPP2R2B analysis, including 31 cases of homozygosis(22.3ï¼…) which contain 5-27 times (13 in average) CAG repeat number; innormal control 252 cases complete the detection, including 61 cases ofhomozygosis (24.2ï¼…) which contain 5-21 times (13 in average) CAGrepeat number. By Southern blot we haven't detected allelomorphic geneof abnormal repeated fragment expansion in ATXN10 from 14 SCA cases which are homozygosis by genetic detection.Conclusions1. Establish the mutation detection platform for ATXN10 By Southernblot and mutation detection platform for ATXN8OS,PPP2R2B.2. Establish the normal reference standard of CTA/CTG,ATTCT,CAG repeat number of ATXN8OS,ATXN10,PPP2R2B in Chinese Hanpeople first time.