单纯性马蹄内翻足易感基因位点筛查.pdf

2010 4 26 4 Ch in J P ubl ic H ealth Ap r 2010 Vol. 26 N o. 4 433 : 2010) : Q 78 : A * 1, 2 1 1 1 1 1 刘丽英 ,金春莲 , 曹东华 , 赵宁 ,林长坤 , 孙开来 : ( ICTEV) , , , PCR ( STR), 84 ICTEV 252, (TDT) IX C L9A 1( 6q12- 13 ) 2 - D6S348 509- 8B2 2 2 TDT , 2 ICTEV ( = 4215, = 3118, P 005) ; TDT, (P 005) C L9A 1 ICTEV , ICTEV C L9A 1 6q12- 13 : ; ;; COL 9A 1 Susceptibility gene location of idiopathic congenital talipes equinovarus L IU L iy ing, JIN Chunlian, CA Donghua, et al.Department ofM edicalG enetics,China M edicalUniversity(Shenyang 110001,China) Abstract: Objective To locate the susceptibility gene of hum an idiopathic congenital talipes equinovarus ( ICTEV ) for further cloning of the gene. Methods A number of candidate genes were proposed as potential susceptibility loci for ICTEV. The geneswere predom inantly related w ith lmi b development, jo int turnover and encode structural proteins of the extracellularmatrix. Each candidate genewas targeted using one ormore intragenic or clo sely linked m icrosatellite marker. G enotypes of 252m embers in 84 ICTEV fam ilieswere analyzed w ith PCRSTR technique. Then transm ission disequilibrium test(TDT) was used to test the data of genotypes. Results The analysis revealed that two lociw ithin or closely linkedm ic 2 rosatellitem arker of IX co llagen gene C L9A 1( 6q12- 13) w ere associated w ith ICTEV, w ith a value of 4215 and 3118(P 005). Conclusion C L 9A 1 genem ay be a candidate susceptive gene of ICTEV. The location of ICTEV s sus ceptive genes is in chromosome 6q12- 13.