倒位PCR法检测血友病AF_基因内含子22_1倒位.pdfVIP

20107 12 3 197 22/ 1* PCR A F 何国平　陈玲　刘雨生　童先宏　宋雅娴　周桂香　骆丽华　张颖新 A(hemophilia A,HA) F22 PCR , HA ( - , - )24 22 , PCR inversion PCR I PCR HA F ,11 24 HA ,7 F22 ,29.17 100 ,1;722 6 , 22/ 1 - 22 , 22 I PCR F HA F PCRPCRAF22/ 1 + 392.11 554 .1 1671-2587(2010)03-0197-04 R R A 22 1 - - , Detection of F Gene Intron and Inversion Using Inversion PCR Assay in Hemophilia A H E Guo ping CH EN , - , . , Lin LIU Yu sheng et al The Center for Rep roductive Medicine The Aff iliated rovincial H osp ital of Anhui Medical U- niversity, H ef ei 230001 Abstract bj ectiveTo establish an effective assay method of direct gene diagnosis on hemophilia A (HA) by de- 22 . 24 tecting the inversion mutation in intron ofF geneand apply it intopractice preliminarily Methods clinically diag- nosedhemophilia pedigrees, including allthe 24cases of probands, weretested for the intron 22 inversion in factor gene by using inversion polymerase chain reaction(PCR) . For allthe positivecases, the patientsmothers werefurther screened for the carriers by the same method as above. One of positive carriers was selected for the prenatal disgnosis under infor- . , 1 . 22 mation consent For all the negative cases detection of the intron inversion was further carried out Results Intron inversion was detected in 7hemophilia probands out of 24 hemophilia pedigrees, intron 1inversion wasn tdetected in these pedigrees. The positive rate and the diagnosable r