X染色体特异区域DNA探针的分离及一个TCD家系的研究

ISOLATION OF THE X-CHROMOSOME SPECIFIC FRAGMENT DNA PROBE AND StUDY ON A TCD FAMILY

从人Ｘ染色体基因文库中筛选出位于Ｘｑ２１．１一ｑ２１．３３区域内的克隆λＳ８，以此作为探针与ＴＣＤ家系进行分子杂交，发现患者出现了８．９ｋｂ和６．９ｋｂ的多态片段，表明λ３８位点处ＴＣＤ基因发生改变，为ＴＣＤ的分子遗传学研究提供了一个新的遗传标记─—λＳ８探针。

lone λs8, included DNA segment at Xq21.1～q2l. 3 was isolated from human X一Chromo-some gene library and hybridized with the DNA sainples of a TCD(tapeto一choridal dystrophy)family. The result showed that the patient had 8.9/6. 9 kb polymorphous fragments. It is sug-gested that TCD gene would have a mutation near the λs8 locus.λs8 will provide a new geneticmarker for TCD molecular genetics study.