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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 China.Methods Based upon the test results of peripheral blood collected from a Chinese family of Morquio IVA syndrome carrying two specific mutations (a c.106del6 heterozygote deletion mutation in exon 1 and a c.1097T>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 sequencing.Meanwhile, according to seven STR sites we have known, STR linkage analysis involved with four of them was set up.Results 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 successfully.The 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 completed.Conclusions Each of these quick and specific methods presents advantages and disadvantages.By 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 blastomere.Therefore, the first PGD for Morquio IVA syndrome in China can be put into effect.