中国人dystrophin基因RFLPs的初步研究  

PRELIMINARY STUDY ON RFLPs FOR DYSTROPHIN GENE IN CHINESE

作　　者：余龙[1] 王伟毅[1] 汪群斌 王敏勤[1] 杨玉美[1] 朱景德 赵寿元[1] 

机构地区：[1]复旦大学遗传学研究所,上海200433 [2]中国科学院上海细胞生物学研究所,上海200031

出　　处：《实验生物学报》1992年第2期173-183,共11页Acta Biologiae Experimentalis Sinica

基　　金：中国科学院上海生命科学联合开放实验室;国家博士后科学基金资助项目

摘　　要：我们用dystrophin基因的cDNA全顺序(长14 kb)为核酸分子杂交探针,对中国人dystrophin基因内的RFLPs进行了初步研究。在结果中给出了PvuⅡ/1 a、Taq Ⅰ/2 b—3、PvuⅡ/2 b—3、TaqⅠ/5 b—7、Xba Ⅰ/10五种杂交中所见的六个RFLPs 的预期杂合频率和受检女性的实际杂合频率;其中PvuⅡ/2 b—3(A 1=26.0 kb,A 2=3.8 kb)和Taq Ⅰ/5 b—7(A 1=10.0 kb,A2=8.4 kb)的2个RFLPs为本文首次报道。PvuⅡ/1 a的2个RFLPs 的等位片段频率与日本人的同类研究结果比较,差异无显著性。但Taq Ⅰ/2 b—3、Taq Ⅰ/5 b—7、Taq Ⅰ/8、EcoR Ⅴ/9和Xba Ⅰ/10的5个RFLPs 与高加索人的数据比较,发现其中4个RFLPs 的等位片段频率的差异有极其显著性。这提示了东西方人在dystrophin 基因的分子结构上存在着较大的差别。在这些差异之中,Taq Ⅰ/2 b—3、Taq Ⅰ/8和EcoR Ⅴ/9检出的RFLPs 等位频率,中国人低于高加索人;而Xba Ⅰ/10检出的RFLPs 等位频率则显著高于高加索人;另外Taq Ⅰ/5 b—7检出的RFLPs的等位片段频率则与高加索人相近。实验结果还提示PvuⅡ/1 a、Taq Ⅰ/5 b—7和Xba Ⅰ/10这三种杂交,对于在中国人群中检测DMD/BMD 基因携带者以及产前诊断,具有很高的应用价值。We have studied the RFLPs distributionand frequency of dystrophin gene in Chine-se by using 14 subclones of complete 14 kbcDNA for the dystrophin gene as hybridization probes.Allelic fragments are dete-cted in hybridization patterns of Pvu Ⅱ/1a.Taq Ⅰ/2b—3,Taq Ⅰ/5b—7,XbaⅠ/10.Among them,the allelic fragments(26kb and 3.8kb)in Pvu Ⅱ/2b—3pat-terns and the allelic fragments(10kb and8.4kb) in Taq Ⅰ/5b—7patterns are thenew RFLPs which have never been reported.From the comparison of our data with thoseof Caucasian and Japanese respectively andtheir statistical analysis,we can obtainthe results as follows:There is remarkable difference(p<0.01)of the allelic fragment frequency inTaq Ⅰ/2b—3(A1=3.4kb,fre.0.04;A2=3.2kb,fre.0.96)and Xba Ⅰ/10(A1=7.4kb,fre.0.41;A2=6.7kb,fre.0.59)between Chinese and Caucasian.Thefrequency of the allelic fragments A2 in TaqⅠ/8(A1=6.5kb,A2=5.6kb)and EcoRV/9(A1=11.8kb,A2=10.7kb)arehigh in Caucasian,but have not been detectedin Chinese.These differences are also high-ly significant.But the B1B2 allelic fre-quencies in Taq Ⅰ/5 b—7(B1=3.2kb,B2=1.6kb)are the same.There is no si-gnificant difference in the frequency of theallelic fragments A1A2 and B1B2 inPvu Ⅱ/1 a between Chinese and Japanese.Preliminary results suggest that thereprobably are high frequencies for sponta-neous neutral mutations in the evolutionprocess of the huge dystrophin gene(about2,300kb).In the meantime,the neutralmutation frequencies of various sectionalsequences have remarkable differences,andthat of some sectional sequences of the genebetween Chinese and Caucasian may alsohave remarkable differences.

关 键 词：中国人 RFLPS DYSTROPHIN 

分 类 号：Q987[生物学—遗传学]