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A methodology study of preimplantation genetic diagnosis of morquio iva syndrome

A methodology study of preimplantation genetic diagnosis of ...

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广东省遗传学会第九届代表大会暨学术研讨会

作者： Yibin Guo Jingxin Pan Dongwei Guo Yan Zhao Weiying Jiang Xinyuan Liu Department of Medical Genetics Zhongshan School of MedicineSun Yat-sen University Department of Internal Medicine The Second Affiliated HospitalFujian University of Medical Science Clinical Medicine Medical CollegeXiamen University Reproductive Medicine Center The First Affiliated HospitalSun Yatsen University

Objective To establish effective and specific methods of preimplantation genetic diagnosis so as to pave the way to implement the first PGD case of morquio iva syndrome in *** Based upon the test results of peripheral blood collected from a Chinese family of morquio iva syndrome carrying two specific mutations(a c.l06del6 heterozygote deletion mutation in exon 1 and a c.l097T>C heterozygote missense mutation in exon 10 of GALNS gene),rapid and distinctive methods were developed,for detecting these two mutations from the sample of the MDA of single lymphocyte or single blastomere,including ARMS,DHPLC,enzyme digestion identification and direct ***,according to seven STR sites we have known,STR linkage analysis involved with four of them was set *** The methods of ARMS and enzyme digestion identification for c.1097T>C heterozygote missense mutation,as well as DHPLC and DS for the two kinds of mutations,were established *** STR linkage analysis concerning 4 polymorphic sites(D16S520,D16S498,D16S3026,and D16S3037) among 7 known sites(D16S3121,D16S3026,D16S413,D16S3074,D16S498,D16S3037,and D16S520) was also *** Each of these quick and specific methods presents advantages and *** combining these methods together,the risk of misdiagnosis can be minimized,and all these tests can be completed in 24 hours after sampling from the MDA of single lymphocyte or single ***,the first PGD for morquio iva syndrome in China can be put into effect.

关键词： morquio iva syndrome GALNS gene Preimplantation genetic diagnosis Amplification refractory mutation system Denaturing high performance liquid chromatography Enzyme digestion identification STR linkage analysis

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