A methodology study of preimplantation genetic diagnosis of Morquio IVA syndrome
作者单位：Department of Medical GeneticsZhongshan School of MedicineSun Yat-sen University Department of Internal MedicineThe Second Affiliated HospitalFujian University of Medical Science Clinical MedicineMedical CollegeXiamen University Reproductive Medicine CenterThe First Affiliated HospitalSun Yatsen University
会议名称：《广东省遗传学会第九届代表大会暨学术研讨会》
会议日期：2014年
学科分类：1002[医学-临床医学] 100201[医学-内科学(含：心血管病、血液病、呼吸系病、消化系病、内分泌与代谢病、肾病、风湿病、传染病)] 10[医学]
基 金：National Natural Science Foundation of China grant(No:30772069) Fujian and Guanedone coooeration Droiects fund(No:71010025)
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
摘 要：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.l097TC 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.1097TC 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.